UCSF Pharmacogenetics of Membrane Transporters
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Common Name:MRP1
HGNC Symbol:ABCC1
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 1
HGNC ID:51
Chromosome:Chr.16(+): 15950935-16144432
Location:16p13.1
OMIM:158343
OMIM Phenotype:None
Accessions:L05628, U91318
Nucleotide RefSeq:NM_004996
Protein RefSeq:NP_004987
Entrez:4363
Isoforms:5
Evidence:Substrate In Vitro Evidence: 1. MRP1 transport was studied in membrane vesicles prepared from transfected HeLa cells. ATP-dependent primary transport was demonstrated for LTC4, LTD4, LTE4, and S-(2,4-dinitrophenyl)glutathione; The endogenous glutathione conjugate LTC4 had the highest affinity for MRP1 (Km of 97 nM). MK571 inhibited LTC4 transport, while CsA and PSC833 were less effective. Leier, I et al. JBC 1994 Nov, 269(45):27807-10 2. MRP1 stably transfected into SW-1573 human lung carcinoma cells were resistant to doxorubicin, daunorubicin, vincristine, VP-16, colchicines, and rhodamine 123. Zaman, GJ et al. PNAS 1994 Sep 13, 91(19):8822-6 PMID 7916458. 3. MRP1 is a primary active transporter of GSH, glucuronate, and sulfate conjugated and unconjugated organic anions, including antifolate anti-cancer agents. Leslie, EM et al. Toxicology 2001 Oct 5, 167(1):3-23 PMID 11557126 (review). Substrate In Vivo Evidence: 1. MRP1 knockout mice demonstrated the contribution of MRP1 to the blood-cerebrospinal fluid drug permeability barrier. Wijnholds, J. Novartis Found Symp 2002, 243:69-79 PMID 11990783 (review). 2. LY475776 inhibits MRP1 with high affinity and specificity in a GSH-dependent manner. Qian, YM eta l. JBC 2002 Sep 20, 277(38):35225-31 PMID 12138119. Tissue Distribution Evidence: 1. Ubiquitous, prominent in the brain. Wijnholds, J. Novartis Found Symp 2002, 243:69-79 PMID 11990783 (review).
Tissues:ubiquitous, high levels in brain
Type:protein coding
Sets:I,IV
PharmGKB ID:PA244
HPRD ID:01153
Substrates:glutathione-, glucuronate-, and sulfate-conjugated organic anions
Trivial Names:MRP, ABCC, GS-X, MRP1, ABC29, DKFZp781G125, DKFZp686N04233
Transcripts:NM_004996 [Chr.16(+): 15950935-16144432]
NM_019862 [Chr.16(+): 15950935-16144432]
NM_019898 [Chr.16(+): 15950935-16144432]
NM_019899 [Chr.16(+): 15950935-16144432]
NM_019900 [Chr.16(+): 15950935-16144432]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCC1 Resequencing
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Study Name:ABCC1 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
 
3748
PDE
rs8187842
 16009372  
AACTGTAAGTCACTGGGGGGTTTCG T → G TGTGGGGGGTGGGAAGGTGCACCTG
+ 
 
n=
T/T=
T/G=
G/G=
G=
200
99
1
0
0.005
198
99
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3749
PDE
rs8187843
I16009376  
GTAAGTCACTGGGGGGTTTCGTTGT G → A GGGGGTGGGAAGGTGCACCTGGACG
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
98
2
0
0.010
198
85
12
2
0.081
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3750
PDE
rs8187844
1 pub		I16011183450275
GTCTGCTGGGCAGACCTCTTCTACT C → T TTTCTGGGAAAGAAGTCGGGGCATA
+92
Ser → Phe
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3751
PDE
rs8187845
I16017834  
GCCCCAGAATGTGATCTTTTTCTTC C → T TTCCTTCCCCACCATGTAGGATGCC
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3752
PDE
rs8187846
I16034545  

C → CC, T
GATCACAGGGTAAGGCCAGGCCCCC C → CC AGACCTCAGGGAGGTGGTGGGGAGT
GATCACAGGGTAAGGCCAGGCCCCC C → T AGACCTCAGGGAGGTGGTGGGGAGT
+ 

 
 
 
n=
C/C=
C/CC=
CC/CC=
C/T=
T/T=
CC/T=
CC=
T=
200
98
2
0
0
0
0
0.010
0.000
200
99
0
0
1
0
0
0.000
0.005
60
30
0
0
0
0
0
0.000
0.000
20
10
0
0
0
0
0
0.000
0.000
14
7
0
0
0
0
0
0.000
0.000
Set-I
Exon: Coding
3753
PDE
rs8187848
1 pub		I16037841864689
TGTCTTGGCCCCAGGTTGATTGTCC G → A GGGCTACCGCCAGCCCCTGGAGGGC
+230
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3754
PDE
rs8187849
 16037858881706
GATTGTCCGGGGCTACCGCCAGCCC C → T TGGAGGGCAGTGACCTCTGGTCCTT
+236
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
200
94
6
0
0.030
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3755
PDE
rs45609533
I16037992  
TGTGAGTTTCCTTGTCCTCCAGGAT G → T CCCTGGTCACCTCCTTTCCACTCCT
+ 
 
n=
G/G=
G/T=
T/T=
T=
200
98
2
0
0.010
200
98
2
0
0.010
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3756
PDE
rs8187851
I1604720012221047
TCTCTTTGCTCCTTTGCAGGTTGCT C → T ATCAAGTTCGTGAATGACACGAAGG
+349
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3757
PDE
rs8187852
1 pub		I1604721012321057
CCTTTGCAGGTTGCTCATCAAGTTC G → A TGAATGACACGAAGGCCCCAGACTG
+353
Val → Met
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3758
PDE
rs35587
I1604721512371062
GCAGGTTGCTCATCAAGTTCGTGAA T → C GACACGAAGGCCCCAGACTGGCAGG
+354
Asn = Asn
n=
T/T=
T/C=
C/C=
C=
200
13
58
29
0.580
200
49
40
11
0.310
60
8
20
2
0.400
20
3
6
1
0.400
14
7
0
0
0.000
Set-I
Exon: Coding
3759
PDE
rs8187853
I1604722112431068
TGCTCATCAAGTTCGTGAATGACAC G → A AAGGCCCCAGACTGGCAGGGCTACT
+356
Thr = Thr
n=
G/G=
G/A=
A/A=
A=
200
82
15
3
0.105
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3760
PDE
rs35588
 16047379  
GGGGCTGTCTATCGGAAGGTAGGGG A → G CGCTGTGCCATTGGCATGTGGCCCG
+ 
 
n=
A/A=
A/G=
G/G=
G=
200
13
59
28
0.575
200
49
40
11
0.310
60
8
20
2
0.400
20
3
6
1
0.400
14
7
0
0
0.000
Set-I
 
3761
PDE
rs8187854
I16049450  
TCCGTGGGTCTGGAGGGAGAGTCAG G → A CCTCTTCAGCTGCCACACTCACCCA
+ 
 
n=
G/G=
G/A=
A/A=
A=
198
99
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3762
PDE
rs8187855
I16049674  
CCTCCTGTGGCTGGTGTGTGTTTAA C → T GCCGTTTCCCTTTGCATGCAGGGAG
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3763
PDE
rs45466894
A16054077  
AGTGATGAAGAGTCTCCTTTCCTTC C → G TTAGAATCTGGGCCCTTCCGTCCTG
+ 
 
n=
C/C=
C/G=
G/G=
G=
200
87
13
0
0.065
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
12
6
0
0
0.000
Set-I
 
3764
PDE
rs3765129
I16057402  
ATAGCTGGTGATGTTGAGTGATGGG C → T TGATCCCAGGGTCGCCCCAGATGTG
+ 
 
n=
C/C=
C/T=
T/T=
T=
198
95
2
2
0.030
198
74
18
7
0.162
60
25
5
0
0.083
20
6
3
1
0.250
14
7
0
0
0.000
Set-I
 
3765
PDE
rs8187857
I16069500  
TCGGGGCACAGCAGTCAGCACTGGG C → T GTTCTGCTTGCAGGTGGCCTTGTGC
+ 
 
n=
C/C=
C/T=
T/T=
T=
192
95
1
0
0.005
200
99
1
0
0.005
48
24
0
0
0.000
16
8
0
0
0.000
12
6
0
0
0.000
Set-I
Exon: Coding
3766
PDE
rs35605
2 pubs		I1606952018591684
CTGGGCGTTCTGCTTGCAGGTGGCC T → C TGTGCACATTTGCCGTCTACGTGAC
+562
Leu = Leu
n=
T/T=
T/C=
C/C=
C=
200
0
23
77
0.885
200
5
29
66
0.805
48
2
8
14
0.750
18
0
2
7
0.889
12
3
2
1
0.333
Set-I
Exon: Coding
3767
PDE
rs8187858
I1606954018791704
TGGCCTTGTGCACATTTGCCGTCTA C → T GTGACCATTGACGAGAACAACATCC
+568
Tyr = Tyr
n=
C/C=
C/T=
T/T=
T=
200
93
7
0
0.035
200
83
17
0
0.085
48
24
0
0
0.000
18
9
0
0
0.000
12
6
0
0
0.000
Set-I
Exon: Coding
3914
PDE
rs8187859
I1607308620861911
GCATCGAGCGACGGCCTGTCAAAGA C → T GGTGTGTGTGTGTTCAGTCCTGGCT
+637
Asp = Asp
n=
C/C=
C/T=
T/T=
T=
198
98
1
0
0.005
200
100
0
0
0.000
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3915
PDE
rs8187860
 16073124  
TTCAGTCCTGGCTTCTGGAAGTGGC C → T GCCTTCCCATCTCCCACTGGGTCCT
+ 
 
n=
C/C=
C/T=
T/T=
T=
190
94
1
0
0.005
196
98
0
0
0.000
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3916
PDE
rs8187861
 16073125  
TCAGTCCTGGCTTCTGGAAGTGGCC G → A CCTTCCCATCTCCCACTGGGTCCTC
+ 
 
n=
G/G=
G/A=
A/A=
A=
190
78
16
1
0.095
196
98
0
0
0.000
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3917
PDE
rs45573136
I16073140  
GGAAGTGGCCGCCTTCCCATCTCCC A → T CTGGGTCCTCCCTACTTGCATTTCT
+ 
 
n=
A/A=
A/T=
T/T=
T=
190
92
3
0
0.016
196
98
0
0
0.000
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3918
PDE
rs8187863
I1608072221762001
TGTGTCGTTTCAGCATCACCTTCTC C → T ATCCCCGAAGGTGCTTTGGTGGCCG
+667
Ser = Ser
n=
C/C=
C/T=
T/T=
T=
196
96
2
0
0.010
196
95
3
0
0.015
58
27
2
0
0.034
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3919
PDE
rs2301666
1 pub		I1608072821822007
GTTTCAGCATCACCTTCTCCATCCC C → T GAAGGTGCTTTGGTGGCCGTGGTGG
+669
Pro = Pro
n=
C/C=
C/T=
T/T=
T=
196
98
0
0
0.000
196
98
0
0
0.000
58
28
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3920
PDE
rs45460392
 16084703  
ATCTGTCTGTGTGTCTGTCTCACCT C → A GTTCTCCATTTGCAACTTAGGGCTC
+ 
 
n=
C/C=
C/A=
A/A=
A=
200
98
2
0
0.010
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3768
PDE
rs35308102
 16091724  
TCTGCCAAGCTAGGCAGTCTCACAC A → - TGTGCACTCACGTGGCCGGGTGTCC
+ 
 
n=
A/A=
A/-=
-/-=
-=
186
84
9
0
0.048
176
86
2
0
0.011
52
25
1
0
0.019
20
9
1
0
0.050
14
5
2
0
0.143
Set-I
 
3769
PDE
rs34975730
 16091725  
CTGCCAAGCTAGGCAGTCTCACACA T → - GTGCACTCACGTGGCCGGGTGTCCC
+ 
 
n=
T/T=
T/-=
-/-=
-=
186
84
9
0
0.048
176
86
2
0
0.011
52
25
1
0
0.019
20
9
1
0
0.050
14
5
2
0
0.143
Set-I
 
3770
PDE
rs2074087
I16091733  
CTAGGCAGTCTCACACATGTGCACT C → G ACGTGGCCGGGTGTCCCCTTTGCCC
+ 
 
n=
C/C=
C/G=
G/G=
G=
186
1
25
67
0.855
176
5
23
60
0.812
52
3
7
16
0.750
20
0
3
7
0.850
14
3
3
1
0.357
Set-I
 
3771
PDE
rs45492500
 16091736  
GGCAGTCTCACACATGTGCACTCAC G → A TGGCCGGGTGTCCCCTTTGCCCACA
+ 
 
n=
G/G=
G/A=
A/A=
A=
186
92
1
0
0.005
176
79
9
0
0.051
52
26
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
3772
PDE
rs28364004
 1609186727402565
CTGAGATGGGCTCCTACCAGGAGCT G → T CTGGCTCGAGACGGCGCCTTCGCTG
+855
Leu = Leu
n=
G/G=
G/T=
T/T=
T=
192
94
0
2
0.021
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3773
PDE
rs45531136
 1610816829832808
ACAACAGCACCGCAGAACTGCAGAA A → G GCTGAGGCCAAGAAGGAGGAGACCT
+936
Lys = Lys
n=
A/A=
A/G=
G/G=
G=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3774
PDE
rs11075296
I16108257  
GTGAGATTCGCTCCTTAAGTGATGA T → C AGTGGCTGGAGTTTATAGAGCGCCC
+ 
 
n=
T/T=
T/C=
C/C=
C=
200
87
13
0
0.065
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3775
PDE
rs45607431
 1611281931332958
GCATCTTCCTTTTCATGTGTAACCA T → C GTGTCCGCGCTGGCTTCCAACTATT
+986
His = His
n=
T/T=
T/C=
C/C=
C=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3776
PDE
rs35529209
1 pub		 1611282631402965
CCTTTTCATGTGTAACCATGTGTCC G → A CGCTGGCTTCCAACTATTGGCTCAG
+989
Ala → Thr
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3777
PDE
rs35934123
 1611282831422967
TTTTCATGTGTAACCATGTGTCCGC G → A CTGGCTTCCAACTATTGGCTCAGCC
+989
Ala = Ala
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3778
PDE
rs3851716
 16112950  
CTGGGCATTTCACAAGGTTGGTGCC A → G CTGTCTCCCACCCCGCCTGATTTGG
+ 
 
n=
A/A=
A/G=
G/G=
G=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3779
PDE
rs34794353
 16112964  
AGGTTGGTGCCACTGTCTCCCACCC C → T GCCTGATTTGGGCCCCTGTTGTGGC
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3780
PDE
rs13337489
1 pub		A1611618433153140
ATCGGGGGGATCTTGGCTTCCCGCT G → C TCTGCACGTGGACCTGCTGCACAGC
+1047
Cys → Ser
n=
G/G=
G/C=
C/C=
C=
200
91
9
0
0.045
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3781
PDE
rs45517635
 16123571  
GCCTGCAGGAGCGGGTGGAGGAGGC C → T GCCTTAGCACCTTGTCTCTTTGCCT
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
95
5
0
0.025
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3782
PDE
rs9933640
I1612723039553780
CTGAAATGGAAACCAACATCGTGGC C → T GTGGAGAGGCTCAAGGAGTATTCAG
+1260
Ala = Ala
n=
C/C=
C/T=
T/T=
T=
200
93
7
0
0.035
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3783
PDE
rs35025182
 16133122  
TACCAGATGGACTGGAAATTCCTTA C → - TCTCTCCCTTCACTGCGATCGAAGG
+ 
 
n=
C/C=
C/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3784
PDE
rs34894903
 16133123  
ACCAGATGGACTGGAAATTCCTTAC T → - CTCTCCCTTCACTGCGATCGAAGGC
+ 
 
n=
T/T=
T/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3785
PDE
rs36081050
 16133124  
CCAGATGGACTGGAAATTCCTTACT C → - TCTCCCTTCACTGCGATCGAAGGCG
+ 
 
n=
C/C=
C/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3786
PDE
rs34033822
 16133125  
CAGATGGACTGGAAATTCCTTACTC T → - CTCCCTTCACTGCGATCGAAGGCGC
+ 
 
n=
T/T=
T/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3787
PDE
rs35723079
 16133126  
AGATGGACTGGAAATTCCTTACTCT C → - TCCCTTCACTGCGATCGAAGGCGCC
+ 
 
n=
C/C=
C/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3788
PDE
rs35962358
 16133127  
GATGGACTGGAAATTCCTTACTCTC T → - CCCTTCACTGCGATCGAAGGCGCCC
+ 
 
n=
T/T=
T/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3789
PDE
rs34068140
 16133128  
ATGGACTGGAAATTCCTTACTCTCT C → - CCTTCACTGCGATCGAAGGCGCCCT
+ 
 
n=
C/C=
C/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3790
PDE
rs35938696
 16133129  
TGGACTGGAAATTCCTTACTCTCTC C → - CTTCACTGCGATCGAAGGCGCCCTG
+ 
 
n=
C/C=
C/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3791
PDE
rs34586380
 16133130  
GGACTGGAAATTCCTTACTCTCTCC C → - TTCACTGCGATCGAAGGCGCCCTGG
+ 
 
n=
C/C=
C/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3792
PDE
rs35615891
 16133131  
GACTGGAAATTCCTTACTCTCTCCC T → - TCACTGCGATCGAAGGCGCCCTGGC
+ 
 
n=
T/T=
T/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3793
PDE
rs35820036
 16133132  
ACTGGAAATTCCTTACTCTCTCCCT T → - CACTGCGATCGAAGGCGCCCTGGCA
+ 
 
n=
T/T=
T/-=
-/-=
-=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3794
PDE
rs45616734
 16133306  
TGGGGGAGAAAAGGTGGGTACACAT C → T GCCCCATTCCCTCACCCATTCCCAG
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
96
4
0
0.020
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3795
PDE
rs2230671
1 pub		I1613574341774002
TGGGGCGGACGGGAGCTGGGAAGTC G → A TCCCTGACCCTGGGCTTATTTCGGA
+1334
Ser = Ser
n=
G/G=
G/A=
A/A=
A=
194
72
25
0
0.129
190
44
51
0
0.268
58
21
8
0
0.138
20
6
3
1
0.250
14
5
2
0
0.143
Set-I
Exon: Coding
3796
PDE
rs34526519
 1613792843934218
AAGTCTGGACGTCCCTGGAGCTGGC C → T CACCTGAAGGACTTCGTGTCAGCCC
+1406
Ala = Ala
n=
C/C=
C/T=
T/T=
T=
200
94
5
1
0.035
200
99
0
1
0.010
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3797
PDE
rs34327330
 1613794344084233
TGGAGCTGGCCCACCTGAAGGACTT C → T GTGTCAGCCCTTCCTGACAAGCTAG
+1411
Phe = Phe
n=
C/C=
C/T=
T/T=
T=
200
97
3
0
0.015
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3798
PDE
rs36115566
 1613977345194344
TAGCCCGGGCCCTGCTGAGGAAGAC G → A AAGATCCTTGTGTTGGATGAGGCCA
+1448
Thr = Thr
n=
G/G=
G/A=
A/A=
A=
142
68
3
0
0.021
142
71
0
0
0.000
34
17
0
0
0.000
10
5
0
0
0.000
8
4
0
0
0.000
Set-I
Exon: Coding
3799
PDE
rs35148086
 1613988146274452
TCGAGGACTGCACCGTCCTCACCAT C → T GCCCACCGGCTCAACACCATCATGG
+1484
Ile = Ile
n=
C/C=
C/T=
T/T=
T=
142
64
7
0
0.049
142
71
0
0
0.000
34
17
0
0
0.000
10
5
0
0
0.000
8
4
0
0
0.000
Set-I
 
3800
PDE
rs212088
 16139934  
TACACAAGGTGATGCCACTGGCACA A → G TGGCCTCTAGGCTTTGGGAGTTTGC
+ 
 
n=
A/A=
A/G=
G/G=
G=
138
3
23
43
0.790
142
3
23
45
0.796
34
2
3
12
0.794
10
1
1
3
0.700
8
0
2
2
0.750
Set-I
 
3801
PDE
rs35224183
 16142480  
CCCAGGTCAGTTGTCCCAGGGGCAC G → C AGGTGCTCACCCCTCCCCTTCCCCT
+ 
 
n=
G/G=
G/C=
C/C=
C=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3802
PDE
rs35980404
 1614262447564581
GTCTTTTCTACAGCATGGCCAAAGA C → T GCCGGCTTGGTGTGAGCCCCAGAGC
+1527
Asp = Asp
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
2
4
1
0.429
Set-I

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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