UCSF Pharmacogenetics of Membrane Transporters
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Common Name:MRP6
HGNC Symbol:ABCC6
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 6
HGNC ID:57
Chromosome:Chr.16(-): 16150923-16224838
Location:16p13.1
OMIM:603234
OMIM Phenotype:Pseudoxanthoma elasticum, autosomal dominant; Pseudoxanthoma elasticum, autosomal recessive; Pseudoxanthoma elasticum, sporadic
Accessions:AF076622
Nucleotide RefSeq:NM_001171
Protein RefSeq:NP_001162
Entrez:368
Isoforms:2
Evidence:Substrate In Vitro Evidence: 1. MRP6 cDNA was amplified from human kidney and expressed in Sf9 cells. Glutathione conjugates, including LTC4 and NEM-GS, were actively transported by MRP6. The organic anions probenecid, benzbromarone, and indomethacin inhibited MRP6-mediated NEM-GS transport. Three missense mutant forms of MRP6 known to cause PXE displayed normal ATP binding but no transport ability. Ilias, A et al. JBC 2002 May 10, 277(19):16860-7 PMID 11880368. 2. BQ123, a cyclopentapeptide antagonist of the endothelin receptor, is transported by MRP6. Renes, J et al. Drug Resist Updat 2000 Oct, 3(5):289-302 PMID 11498397. Substrate In Vivo Evidence: 1. Dominant and recessive forms of pseudoxanthoma elasticum (calcification of elastic fibers in skin, arteries, and retina) are linked to mutations in MRP6. Le Saux, O et al. Nat Genet 2000 Jun, 25(2):223-7 PMID 10835642. 2. The R1141Z mutation in MRP6 is significantly correlated with coronary artery disease. Trip, MD et al. Circulation 2002 Aug 13, 106(7):773-5 PMID 12176944. Tissue Distribution Evidence: 1. RNase protection assays demonstrated that MRP6 is highly expressed in liver and kidney and to a low or very low extent in a few other tissues. In a panel of resistant cell lines, MRP6 was overexpressed only in those cell lines that also overexpressed and amplified MRP1 (Southern blot). The results suggest that MRP6 is coamplified with MRP1 only because of its location directly next to it on chromosome 16. Kool, M et al. Cancer Res 1999 Jan 1, 59(1):175-82 PMID 9892204. 2. When expressed by retroviral transduction in MDCKII cells, MRP6 is localized to the basolateral membrane. Sinko, E et al. Biochem Biophys Res Comm 2003 Aug 22, 308(2):263-9 PMID 12901863.
Tissues:liver, kidney
Type:protein coding
Sets:II,IV
PharmGKB ID:PA58
HPRD ID:04453
Substrates:glutathione conjugates (LTC4, NEM-GS)
Trivial Names:ARA, PXE, MLP1, MRP6, PXE1, ABC34, MOATE, EST349056
Transcripts:NM_001171 [Chr.16(-): 16150923-16224829]
NM_001079528 [Chr.16(-): 16222545-16224829]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCC6 Resequencing
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Study Name:ABCC6 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqPA FreqSample Set
Exon: Coding
5145
PDE
rs58052516
 16223047216179
CTCCTCTTCATCCACCACCATGGCC G → A GGGCTACCTCCGGATGTCCCCACTC
-60
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
154
77
0
0
0.000
158
79
0
0
0.000
120
60
0
0
0.000
98
47
2
0
0.020
12
6
0
0
0.000
Set-II
 
5034
PDE
rs57315199
 16199552  
TCCCCACTTTACTTCTCTCCTTCTG C → T CCACCCGCCAGGTCCTGGCTCTGTC
- 
 
n=
C/C=
C/T=
T/T=
T=
156
77
1
0
0.006
152
76
0
0
0.000
114
57
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5035
PDE
rs9930886
1 pub		I1619948412701233
CCAGTGCGGTGGGTGATGTGGTCAA T → C CTGGTGTCCGTGGACGTGCAGCGGC
-411
Asn = Asn
n=
T/T=
T/C=
C/C=
C=
156
51
26
1
0.179
152
51
18
7
0.211
114
34
18
5
0.246
100
25
20
5
0.300
12
4
2
0
0.167
Set-II
Exon: Coding
5036
PDE
rs9940825
1 pub		 1619947212821245
GTGATGTGGTCAATCTGGTGTCCGT G → A GACGTGCAGCGGCTGACCGAGAGCG
-415
Val = Val
n=
G/G=
G/A=
A/A=
A=
156
54
23
1
0.160
152
52
18
6
0.197
114
47
10
0
0.088
100
26
20
4
0.280
12
6
0
0
0.000
Set-II
Exon: Coding
5037
PDE
rs57499497
 1619943313211284
TGACCGAGAGCGTCCTCTACCTCAA C → T GGGCTGTGGCTGCCTCTCGTCTGGA
-428
Asn = Asn
n=
C/C=
C/T=
T/T=
T=
156
78
0
0
0.000
152
75
1
0
0.007
114
57
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5038
PDE
rs9940089
 16199372  

C → A, G
CTTCGTCTATCTCTGGCAGGTATGC C → A AGAGGAGGAAGACGGGATTTGAACG
CTTCGTCTATCTCTGGCAGGTATGC C → G AGAGGAGGAAGACGGGATTTGAACG
- 

 
 
 
n=
C/C=
C/A=
A/A=
C/G=
G/G=
A/G=
A=
G=
156
16
0
0
22
40
0
0.000
0.654
152
28
0
0
6
41
1
0.007
0.586
114
4
0
0
0
52
1
0.009
0.921
100
6
0
0
2
42
0
0.000
0.860
12
1
0
0
0
5
0
0.000
0.833
Set-II
 
5039
PDE
rs12929920
 16199359  
TGGCAGGTATGCCAGAGGAGGAAGA C → G GGGATTTGAACGGAGTCCCCCACCC
- 
 
n=
C/C=
C/G=
G/G=
G=
156
27
29
22
0.468
152
29
5
42
0.586
114
8
0
49
0.860
100
5
5
40
0.850
12
1
0
5
0.833
Set-II
 
5040
PDE
rs58394656
 16199317  
CCCCCACCCCCTCCTTCTCCCCCTC G → C TCCTTCCCCCTCCCACCCTTCCTCC
- 
 
n=
G/G=
G/C=
C/C=
C=
156
12
8
58
0.795
152
29
9
38
0.559
114
7
2
48
0.860
100
7
3
40
0.830
12
1
0
5
0.833
Set-II
Exon: Coding
5041
PDE
rs58703366
 1619427513811344
CCTGCCCCTTCTATCCCCAGCTCCT G → A GGGCCCTCCGCCCTCACTGCCATCG
-448
Leu = Leu
n=
G/G=
G/A=
A/A=
A=
160
74
6
0
0.037
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5042
PDE
rs59683222
 16194165  
CAGGTTTGGCTTTTGGGAAAGGGAC G → A GACCAGGCAGGAAGTAGGGAGGAAG
- 
 
n=
G/G=
G/A=
A/A=
A=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5043
PDE
rs7193932
 16191773  
GGTGGCTGTCAGGGTGCAGGGAAGA A → G TTCTCAACTGTCCCTGTCTTCATCT
- 
 
n=
A/A=
A/G=
G/G=
G=
160
59
19
2
0.144
160
79
1
0
0.006
120
60
0
0
0.000
100
48
2
0
0.020
12
6
0
0
0.000
Set-II
 
5044
PDE
rs2239322
I16191766  
GTCAGGGTGCAGGGAAGAATTCTCA A → G CTGTCCCTGTCTTCATCTCTCTTTT
- 
 
n=
A/A=
A/G=
G/G=
G=
160
71
9
0
0.056
160
29
41
10
0.381
120
20
24
16
0.467
100
19
26
5
0.360
12
0
4
2
0.667
Set-II
 
5045
PDE
rs61480102
 16190342  
TCACTGTTGCCCCACGTGTCCCCCC C → T ACCCCCCAGGTCGCACTGGTGGTGT
- 
 
n=
C/C=
C/T=
T/T=
T=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5046
PDE
rs56877937
 1619032916761639
ACGTGTCCCCCCCACCCCCCAGGTC G → A CACTGGTGGTGTTTGCTGTCCACAC
-547
Ala → Thr
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
58
2
0
0.017
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5047
PDE
rs61318127
 1618853418521815
CCTTTGACCGTCTGGTCACCTTCCT C → T TGCCTGGAAGAAGTTGACCCTGGTG
-605
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
160
77
3
0
0.019
160
80
0
0
0.000
120
60
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5048
PDE
rs12931472
1 pub		I1618850818781841
TGCCTGGAAGAAGTTGACCCTGGTG T → C CGTAGACTCAAGTTCCTCTGGAAGC
-614
Val → Ala
n=
T/T=
T/C=
C/C=
C=
160
25
44
11
0.412
160
28
37
15
0.419
120
44
15
1
0.142
98
11
23
15
0.541
12
6
0
0
0.000
Set-II
 
5049
PDE
rs59385722
 16184297  
AACCAAGGTCATGTCTCCCCTCTTG C → A GTGTCCAGAATAAACCTCACGGTGC
- 
 
n=
C/C=
C/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5050
PDE
rs59002125
 1618424220271990
GGGCTGTCTGCTGGCTGTTGTCGGT C → T CAGTGGGGGCAGGGAAGTCCTCCCT
-664
Pro → Ser
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
79
1
0
0.006
120
59
1
0
0.008
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5051
PDE
rs57866002
 1618417420952058
GGGAGCTGTCAAAGGTGGAGGGGTT C → T GTGAGCATCGAGGTGAGGCCACCCC
-686
Phe = Phe
n=
C/C=
C/T=
T/T=
T=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5052
PDE
rs61266641
 1618416521042067
CAAAGGTGGAGGGGTTCGTGAGCAT C → T GAGGTGAGGCCACCCCCAGCCTGTC
-689
Ile = Ile
n=
C/C=
C/T=
T/T=
T=
160
77
3
0
0.019
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5053
PDE
rs61150933
 16184111  
TAGGATGTCCCCATCCTGAAAGTCC C → G ACTTCCTCGCTGCCTTCCCACCCTC
- 
 
n=
C/C=
C/G=
G/G=
G=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5054
PDE
rs58073789
 1618384622082171
GAGCTGGACCCACCCTGGCTGGAGA G → A AGTACTAGAAGCCTGTGCCCTGCAG
-724
Arg → Lys
n=
G/G=
G/A=
A/A=
A=
160
76
4
0
0.025
160
78
2
0
0.013
120
60
0
0
0.000
100
48
2
0
0.020
12
6
0
0
0.000
Set-II
Exon: Coding
5055
PDE
rs59757815
 1618384222122175
TGGACCCACCCTGGCTGGAGAGAGT A → T CTAGAAGCCTGTGCCCTGCAGCCAG
-725
Val = Val
n=
A/A=
A/T=
T/T=
T=
160
72
8
0
0.050
160
78
2
0
0.013
120
60
0
0
0.000
100
48
2
0
0.020
12
6
0
0
0.000
Set-II
Exon: Coding
5056
PDE
rs59593133
 1618379322612224
AGATGTGGACAGCTTCCCTGAGGGA A → G TCCACACTTCAATTGGGGAGCAGGT
-742
Ile → Val
n=
A/A=
A/G=
G/G=
G=
160
72
8
0
0.050
160
78
2
0
0.013
120
60
0
0
0.000
100
48
2
0
0.020
12
6
0
0
0.000
Set-II
Exon: Coding
5057
PDE
rs57794451
 1618026523432306
CTGAGCCTGGCCCGGGCTGTATACA G → A AAAGGCAGCTGTGTACCTGCTGGAT
-769
Arg → Lys
n=
G/G=
G/A=
A/A=
A=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5058
PDE
rs7500834
I1618017124372400
TCAACCAGGTCATTGGGCCTGGTGG G → A CTACTCCAGGGAACAGTAAGTTTGG
-800
Gly = Gly
n=
G/G=
G/A=
A/A=
A=
160
72
7
1
0.056
160
80
0
0
0.000
120
60
0
0
0.000
100
47
3
0
0.030
12
6
0
0
0.000
Set-II
 
5059
PDE
rs59369381
 16180123  
TGGGAACATGTGTCAGACAGTACAG G → A GCAAAGGCAGAGGAAGCACTTAGCA
- 
 
n=
G/G=
G/A=
A/A=
A=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5060
PDE
rs60072519
 16180065  
CTAACCCAAGTTTATCTCACCTCCC C → G CTTCCACTTGAGTCCAATTTCCTCT
- 
 
n=
C/C=
C/G=
G/G=
G=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5061
PDE
rs9924755
IA1617891025272490
GGATCATAGTGCTGGCAAATGGGGC C → T ATCGCAGAGATGGGTTCCTACCAGG
-830
Ala = Ala
n=
C/C=
C/T=
T/T=
T=
160
45
31
4
0.244
160
52
26
2
0.188
120
55
5
0
0.042
100
33
16
1
0.180
12
6
0
0
0.000
Set-II
Exon: Coding
5062
PDE
rs60990156
 1617887925582521
AGAGATGGGTTCCTACCAGGAGCTT C → T TGCAGAGGAAGGGGGCCCTCGTGTG
-841
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
80
0
0
0.000
120
60
0
0
0.000
100
48
2
0
0.020
12
6
0
0
0.000
Set-II
Exon: Coding
5063
PDE
rs6416668
I1617885825792542

G → A, -
GCTTCTGCAGAGGAAGGGGGCCCTC G → - TGTGTCTTCTGGATCAAGCCAGACA
GCTTCTGCAGAGGAAGGGGGCCCTC G → A TGTGTCTTCTGGATCAAGCCAGACA
-848

 
Val → DEL
Val → Met
n=
G/G=
G/-=
-/-=
G/A=
A/A=
-/A=
-=
A=
160
72
0
0
7
1
0
0.000
0.056
160
80
0
0
0
0
0
0.000
0.000
120
58
2
0
0
0
0
0.017
0.000
100
47
0
0
3
0
0
0.000
0.030
12
6
0
0
0
0
0
0.000
0.000
Set-II
 
5064
PDE
rs56892090
 16178770  
TTGCTGATTCTCCAGGCCTGGCTCC T → C GCCACCCTTGGGGGAAAAGGCTCGA
- 
 
n=
T/T=
T/C=
C/C=
C=
160
80
0
0
0.000
160
80
0
0
0.000
120
60
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
5065
PDE
rs61018241
 16178765  
GATTCTCCAGGCCTGGCTCCTGCCA C → T CCTTGGGGGAAAAGGCTCGAAGGGT
- 
 
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
80
0
0
0.000
120
57
3
0
0.025
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5066
PDE
rs57188932
 16177371  
CAAAGTGGGTATCTGGGCCGTGTTG C → T GTGACAGGACTCTCTTGACCTTGCA
- 
 
n=
C/C=
C/T=
T/T=
T=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5067
PDE
rs59206042
 1617727626962659
TGCAGGCAGGAGGCCCGAGCTTAGA C → T GCGAGAGGTGAGTCCACCATGGTGC
-887
Arg → Cys
n=
C/C=
C/T=
T/T=
T=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5068
PDE
rs58469665
 16174806  
AGGGTTAGGCACATACACCCCACCA T → C TGGGAGAGATACTGACTTTGTCTTC
- 
 
n=
T/T=
T/C=
C/C=
C=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5069
PDE
rs60712230
 1617472227442707
CCCTGAGAAGGACCGTACCACTTCA G → C AAGCCCAGACAGAGGTTCCTCTGGA
-903
Glu → Gln
n=
G/G=
G/C=
C/C=
C=
160
76
3
1
0.031
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5070
PDE
rs2856585
I1617116428722835
CCTACCTGCGTGCCGTGGGCACCCC C → T CTCTGCCTCTACGCACTCTTCCTCT
-945
Pro = Pro
n=
C/C=
C/T=
T/T=
T=
160
61
18
1
0.125
160
69
10
1
0.075
120
35
21
4
0.242
100
43
7
0
0.070
12
4
2
0
0.167
Set-II
Exon: Coding
5071
PDE
rs61340537
 1617116328732836
CTACCTGCGTGCCGTGGGCACCCCC C → A TCTGCCTCTACGCACTCTTCCTCTT
-946
Leu → Ile
n=
C/C=
C/A=
A/A=
A=
160
80
0
0
0.000
160
77
3
0
0.019
120
60
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
5072
PDE
rs60844527
 16167359  
ACCATGGGGTAGCGGGAGAGACCTG C → T GCAGGGCCCCGTGGGCCGCTCCTGA
- 
 
n=
C/C=
C/T=
T/T=
T=
160
75
5
0
0.031
160
80
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5073
PDE
rs59854002
 16167331  

G → A, -
AGGGCCCCGTGGGCCGCTCCTGAGG G → - TCTCCAGCCCTCATGCTCTTACCTC
AGGGCCCCGTGGGCCGCTCCTGAGG G → A TCTCCAGCCCTCATGCTCTTACCTC
- 

 
 
 
n=
G/G=
G/-=
-/-=
G/A=
A/A=
-/A=
-=
A=
160
79
0
0
1
0
0
0.000
0.006
160
79
1
0
0
0
0
0.006
0.000
118
59
0
0
0
0
0
0.000
0.000
98
49
0
0
0
0
0
0.000
0.000
12
6
0
0
0
0
0
0.000
0.000
Set-II
Exon: Coding
5074
PDE
rs57179857
 1616722331013064
GGCCCGGGCATCCAGGTTGCTCTTC C → G AGAGGCTCCTGTGGGATGTGGTGCG
-1022
Gln → Glu
n=
C/C=
C/G=
G/G=
G=
160
79
1
0
0.006
160
80
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5075
PDE
rs41278174
 1616709732273190
TGACGTGGACATTCCAGACAAACTC C → T GGTCCCTGCTGATGTACGCCTTTGG
-1064
Arg → Trp
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
72
8
0
0.050
118
59
0
0
0.000
98
48
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
5076
PDE
rs60975032
 1616708032443207
ACAAACTCCGGTCCCTGCTGATGTA C → T GCCTTTGGACTCCTGGAGGTCAGCC
-1069
Tyr = Tyr
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
79
1
0
0.006
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5077
PDE
rs60707953
 1616699833263289
TGTGGCCATCCTGCCACTGTTTCTC C → A TCTACGCTGGGTTTCAGGTACGGAG
-1097
Leu → Ile
n=
C/C=
C/A=
A/A=
A=
160
77
3
0
0.019
160
80
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5078
PDE
rs60791294
1 pub		 1616444434503413
ACGTTCCAGGGCAGCACAGTGGTCC G → A GGCATTCCGAACCCAGGCCCCCTTT
-1138
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5079
PDE
rs59030767
 1616439834963459
CCTTTGTGGCTCAGAACAATGCTCG C → T GTAGATGAAAGCCAGAGGATCAGTT
-1153
Arg = Arg
n=
C/C=
C/T=
T/T=
T=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5080
PDE
rs58571995
 16162939  
GATGAGAGTAACCACTCACCCTGCT G → A TCGCTTCCCTTTGCAGGTGGCTTGC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5081
PDE
rs3213471
I16162938  
ATGAGAGTAACCACTCACCCTGCTG T → C CGCTTCCCTTTGCAGGTGGCTTGCG
- 
 
n=
T/T=
T/C=
C/C=
C=
160
54
23
3
0.181
160
78
2
0
0.013
120
52
7
1
0.075
100
48
2
0
0.020
12
0
4
2
0.667
Set-II
 
5082
PDE
rs41278172
 16162925  
CTCACCCTGCTGTCGCTTCCCTTTG C → T AGGTGGCTTGCGGCCAATGTGGAGC
- 
 
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
77
3
0
0.019
120
60
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
5083
PDE
rs58494932
 1616286536013564
ATGGCCTGGTGTTTGCAGCTGCCAC G → A TGTGCTGTGCTGAGCAAAGCCCACC
-1188
Thr = Thr
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
60
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
5219
PDE
rs58538400
 16160839  
GGACTATGCCTGGACGCCCAAGGAG G → A TGATGGGCGGGAGGTGGGGAGGGGG
- 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5220
rs56822940
 16160793  
GGGGGTCCCAGCAAGGACATATTGT G → C GGGGGGGGCAATGGGTCCCTGTTGA
- 
 
n=
G/G=
G/C=
C/C=
C=
160
70
9
1
0.069
160
80
0
0
0.000
120
60
0
0
0.000
100
47
3
0
0.030
12
6
0
0
0.000
Set-II
Exon: Coding
5084
PDE
rs2238472
2 pubs		I1615910038403803
CCTCAGGGCGGGCAGATCGAGTTCC G → A GGACTTTGGGCTAAGATACCGACCT
-1268
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
160
66
14
0
0.087
160
52
24
4
0.200
120
48
12
0
0.100
100
23
21
6
0.330
12
6
0
0
0.000
Set-II
Exon: Coding
5085
PDE
rs61294695
 1615906638743837
GGCTAAGATACCGACCTGAGCTCCC G → A CTGGCTGTGCAGGGCGTGTCCTTCA
-1279
Pro = Pro
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5086
PDE
rs56982924
 1615905138893852
CTGAGCTCCCGCTGGCTGTGCAGGG C → T GTGTCCTTCAAGATCCACGCAGGAG
-1284
Gly = Gly
n=
C/C=
C/T=
T/T=
T=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5087
PDE
rs58694313
1 pub		 1615903239083871
GCAGGGCGTGTCCTTCAAGATCCAC G → A CAGGAGAGAAGGTGAGTGGTTCTCT
-1291
Ala → Thr
n=
G/G=
G/A=
A/A=
A=
160
67
13
0
0.081
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5088
PDE
rs60232261
 16158973  
CTTCTTCATGGAGTTTAGGCCAAAG G → A ACTCCAGGGACAAGGCCCTAAACCC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5103
PDE
rs57472302
 16156469  
AATGAGGGATGGATAGACAGATCTC G → A GGTACAGCAGAAAGATCTCCCCAAT
- 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
158
78
1
0
0.006
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5104
PDE
rs60118003
 16156446  
TCGGGTACAGCAGAAAGATCTCCCC A → C ATAAATGCCCACAAACCCTCTGGTC
- 
 
n=
A/A=
A/C=
C/C=
C=
160
79
1
0
0.006
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5105
PDE
rs57745014
 16156435  

A → C, G
AGAAAGATCTCCCCAATAAATGCCC A → C CAAACCCTCTGGTCAGAGCAGGCCT
AGAAAGATCTCCCCAATAAATGCCC A → G CAAACCCTCTGGTCAGAGCAGGCCT
- 

 
 
 
n=
A/A=
A/C=
C/C=
A/G=
G/G=
C/G=
C=
G=
160
80
0
0
0
0
0
0.000
0.000
158
74
1
0
4
0
0
0.006
0.025
118
59
0
0
0
0
0
0.000
0.000
98
49
0
0
0
0
0
0.000
0.000
12
6
0
0
0
0
0
0.000
0.000
Set-II
 
5106
PDE
rs59513011
 16156413  
CCCACAAACCCTCTGGTCAGAGCAG G → A CCTTTCCTCCCAACCCCGGGCAGGT
- 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
158
73
6
0
0.038
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5107
PDE
rs61097521
 16156396  
CAGAGCAGGCCTTTCCTCCCAACCC C → T GGGCAGGTGGGCATCGTTGGCAGGA
- 
 
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
158
79
0
0
0.000
118
56
3
0
0.025
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5108
PDE
rs57499803
 1615629440153978
CAGCTGAGGGTGGGATCTGGATCGA C → T GGGGTCCCCATTGCCCACGTGGGGC
-1326
Asp = Asp
n=
C/C=
C/T=
T/T=
T=
160
78
2
0
0.013
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5109
PDE
rs57695665
 1615629240173980
GCTGAGGGTGGGATCTGGATCGACG G → A GGTCCCCATTGCCCACGTGGGGCTG
-1327
Gly → Glu
n=
G/G=
G/A=
A/A=
A=
160
73
6
1
0.050
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5110
PDE
rs58902671
 1615628440253988
TGGGATCTGGATCGACGGGGTCCCC A → C TTGCCCACGTGGGGCTGCACACACT
-1330
Ile → Leu
n=
A/A=
A/C=
C/C=
C=
160
79
1
0
0.006
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5111
PDE
rs60320257
 1615627640333996
GGATCGACGGGGTCCCCATTGCCCA C → T GTGGGGCTGCACACACTGCGCTCCA
-1332
His = His
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
158
78
1
0
0.006
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5112
PDE
rs58259232
 1615626140484011
CCATTGCCCACGTGGGGCTGCACAC A → C CTGCGCTCCAGGATCAGCATCATCC
-1337
Thr = Thr
n=
A/A=
A/C=
C/C=
C=
160
79
1
0
0.006
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5113
PDE
rs2066738
 16156182  
CAAAGATGGGAGGCATGGTGGGACC C → T GGCTCTGACCCACCGCCCCTCCCCG
- 
 
n=
C/C=
C/T=
T/T=
T=
160
77
3
0
0.019
158
49
24
6
0.228
118
42
15
2
0.161
98
32
8
9
0.265
12
5
0
1
0.167
Set-II
 
5114
PDE
rs60810627
 16156181  
AAAGATGGGAGGCATGGTGGGACCC G → A GCTCTGACCCACCGCCCCTCCCCGC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
72
8
0
0.050
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5115
PDE
rs57734166
 16156173  
GAGGCATGGTGGGACCCGGCTCTGA C → G CCACCGCCCCTCCCCGCCAGGACCC
- 
 
n=
C/C=
C/G=
G/G=
G=
160
79
1
0
0.006
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5116
PDE
rs61174588
 16156170  
GCATGGTGGGACCCGGCTCTGACCC A → C CCGCCCCTCCCCGCCAGGACCCCAT
- 
 
n=
A/A=
A/C=
C/C=
C=
160
80
0
0
0.000
158
78
1
0
0.006
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5117
PDE
rs60285147
 1615608941424105
CGACCTGCTGCAGGAGCACTCGGAC G → A AGGCTATCTGGGCAGCCCTGGAGAC
-1369
Glu → Lys
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
158
78
1
0
0.006
118
58
1
0
0.008
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5118
PDE
rs56688069
 16155978  
CCGAGGCGAGGACCTGAGGTATGGT C → T GTCCCACCATGGCTGGGACCTGCAG
- 
 
n=
C/C=
C/T=
T/T=
T=
160
78
2
0
0.013
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5119
PDE
rs58760581
 16155977  
CGAGGCGAGGACCTGAGGTATGGTC G → A TCCCACCATGGCTGGGACCTGCAGG
- 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
158
77
2
0
0.013
118
59
0
0
0.000
98
48
1
0
0.010
12
6
0
0
0.000
Set-II
 
5120
PDE
rs57598234
 16155972  
CGAGGACCTGAGGTATGGTCGTCCC A → C CCATGGCTGGGACCTGCAGGTGGGA
- 
 
n=
A/A=
A/C=
C/C=
C=
160
79
1
0
0.006
158
79
0
0
0.000
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5121
PDE
rs57381943
 16155894  
AGGGCCTTCAGGAAATGCCTCCCCC G → A ATAGGATTATCACTCTGTTACATTA
- 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
158
78
1
0
0.006
118
59
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5122
PDE
rs61653875
 16155886  
CAGGAAATGCCTCCCCCGATAGGAT T → - ATCACTCTGTTACATTAATAACCAC
- 
 
n=
T/T=
T/-=
-/-=
-=
160
80
0
0
0.000
158
79
0
0
0.000
118
58
0
1
0.017
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
5089
PDE
rs60228793
 16152179  
GTTTCTGGGCACACCCACACATCAC C → G ATGTGCCGACAAACGCACGTCCCAG
- 
 
n=
C/C=
C/G=
G/G=
G=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5090
PDE
rs61119514
 16152174  
TGGGCACACCCACACATCACCATGT G → A CCGACAAACGCACGTCCCAGCTAAT
- 
 
n=
G/G=
G/A=
A/A=
A=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5091
PDE
rs58530708
 16152164  
CACACATCACCATGTGCCGACAAAC G → A CACGTCCCAGCTAATTGTCCCAATC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5092
PDE
rs60092792
 16152160  
CATCACCATGTGCCGACAAACGCAC G → A TCCCAGCTAATTGTCCCAATCGTTC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
78
2
0
0.013
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5093
PDE
rs58626288
 1615209242844247
CAGCTCCTGTGTCTGGCACGTGCCC T → G TCTCCGGAAGACCCAGATCCTCATC
-1416
Leu → Arg
n=
T/T=
T/G=
G/G=
G=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5094
PDE
rs59588658
 1615208742894252
CCTGTGTCTGGCACGTGCCCTTCTC C → A GGAAGACCCAGATCCTCATCCTGGA
-1418
Arg = Arg
n=
C/C=
C/A=
A/A=
A=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5095
PDE
rs58668703
 1615208542914254
TGTGTCTGGCACGTGCCCTTCTCCG G → A AAGACCCAGATCCTCATCCTGGACG
-1418
Arg = Arg
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5096
PDE
rs61553825
 1615202543514314
CTGCCGTGGACCCTGGCACGGAGCT G → A CAGATGCAGGCCATGCTCGGGAGCT
-1438
Leu = Leu
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
5097
PDE
rs57288618
 1615195744194382
GTGCTGCTCATTGCCCACCGCCTGC G → A CTCCGTGATGGACTGTGCCCGGTAA
-1461
Arg → His
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
5098
PDE
rs212097
IA16151630  
TGCCGAGAGCCTGGGCTGGTGTCCA G → A AGAGCCTCTCTGTCTCCCTCTCCCC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
1
15
64
0.894
160
11
38
31
0.625
120
2
17
41
0.825
100
12
18
20
0.580
12
0
0
6
1.000
Set-II
 
5099
PDE
rs61178084
 16151622  
GCCTGGGCTGGTGTCCAGAGAGCCT C → G TCTGTCTCCCTCTCCCCCACAGGGT
- 
 
n=
C/C=
C/G=
G/G=
G=
160
80
0
0
0.000
160
80
0
0
0.000
120
60
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
5100
PDE
rs58190361
 16151604  
AGAGCCTCTCTGTCTCCCTCTCCCC C → A ACAGGGTTCTGGTCATGGACAAGGG
- 
 
n=
C/C=
C/A=
A/A=
A=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: 3UTR
5101
PDE
rs3902401
 161514744566 
CTGGTCTGAGCCAGGACCCTCAACC G → A TACCCCAGTTGGACCAGCCCGCACA
- 
 
n=
G/G=
G/A=
A/A=
A=
160
75
5
0
0.031
160
61
19
0
0.119
120
52
7
1
0.075
100
46
3
1
0.050
12
6
0
0
0.000
Set-II
Exon: 3UTR
5102
PDE
rs59461468
 161514534587 
AACCGTACCCCAGTTGGACCAGCCC G → A CACAGCCTGCAGTGCTGGAGATGGA
- 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
47
3
0
0.030
12
6
0
0
0.000
Set-II

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
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