UCSF Pharmacogenetics of Membrane Transporters
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Common Name:MRP2
HGNC Symbol:ABCC2
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 2
HGNC ID:53
Chromosome:Chr.10(+): 101532493-101601571
Location:10q24
OMIM:601107
OMIM Phenotype:Dubin-Johnson syndrome
Accessions:U63970
Nucleotide RefSeq:NM_000392
Protein RefSeq:NP_000383
Entrez:1244
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. MRP2-transfected 2008 human ovarian carcinoma cells are resistant to therapeutic antifolates. Hooijberg, JH et al. Biochem Pharmacol 2003 Mar 1, 65(5):765-71 PMID 12628490. 2. MRP2 cDNA was expressed (on the apical membrane) in polarized MDCK cells. MRP2 transports the organic anions S-(2,4-dinitrophenyl)-glutathione, the glutathione conjugate of ethacrynic acid, and S-(PGA1)-glutathione. MRP2 also transports vinblastine. Evers, R et al. J Clin Invest 1998 Apr 1, 101(7):1310-9 PMID 9525973. 3. MRP2 was isolated from a cisplatin-resistant human head and neck cancer KB cell line. Taniguchi, K et al. Cancer Res 1996 Sep 15, 56(18):4124-9 PMID 8797578. 4. Two MRP2 proteins containing missense mutations identified in patients with Dubin-Johnson syndrome were expressed and function was tested in membrane vesicles. The R768 mutation causes deficient maturation and impaired sorting, and the Q1382R mutation impairs the substrate-induced ATP hydrolysis. Hashimoto, K et al. Hepatology 2002 Nov, 36(5):1236-45 PMID 12395335. Substrate In Vivo Evidence: 1. The transport-deficient (TR-) rat, which is defective in cmoat, display a similar phenotype as Dubin-Johnson patients (i.e. Impaired hepatobiliary transport of non-bile salt organic anions). Paulusma, CC et al. Hepatology 1997 Jun, 25(6):1539-42 PMID 9185779. 2. THE MRP2 inhibitor probenecid increased extracellular brain levels of phenytoin in rats. In TR- rats, extracellular brain levels of phenytoin were significantly higher. Potschka, H et al. JPET 2003 Jul, 306(1):124-31 PMID 12663688. Tissue Distribution Evidence: 1. MRP2 is expressed in liver, small intestine, and kidney. Renes, J et al. Drug Resist Updates 2000, 3:289-302 (review) 2. MRP2 is expressed on the blood-brain barrier. Potschka, H et al. JPET 2003 Jul, 306(1):124-31 PMID 12663688. 3. MRP2 expression measured by RT-PCR was measured in subsets of peripheral blood cells. Expression was highest in CD4+ cells, followed by CD8+>CD56+>CD19+ cells. Oselin, K et al. Eur J Haematol 2003 Aug, 71(2):119-23 PMID 12890151.
Tissues:liver, small intestine, kidney
Type:protein coding
Sets:I,IV
PharmGKB ID:PA116
HPRD ID:03065
Substrates:glutathione-, glucuronate-, and sulfate-conjugated organic anions
Trivial Names:DJS, MRP2, cMRP, ABC30, CMOAT, KIAA1010
Transcripts:NM_000392 [Chr.10(+): 101532453-101601652]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCC2 Resequencing
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Study Name:ABCC2 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
 
3821
PDE
rs17222660
 101530945-1508-1647
TTGTCATATACCTGTTGGCCATTTA T → C ATGTCTTCTTTGGAAAAGTGTCTGT
+ 
 
n=
T/T=
T/C=
C/C=
C=
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
 
3822
PDE
rs17222653
 101531029-1424-1563
GTATGTTTGCTATTGAGTTGTATGA G → A TTCCTTATAGTATATTGTGGATATT
+ 
 
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
 
3823
PDE
rs1885301
5 pubs		 101531043-1410-1549
GAGTTGTATGAGTTCCTTATAGTAT A → G TTGTGGATATTAACTCTTCATCAGT
+ 
 
n=
A/A=
A/G=
G/G=
G=
200
23
51
26
0.515
200
21
44
35
0.570
60
1
7
22
0.850
20
0
4
6
0.800
14
1
3
3
0.643
Set-I
 
3824
PDE
rs17222667
I101531300-1153-1292
AGAATCTCCCACATTCTGGATTTTG A → G CAATTGCATTCCAATGGAGTCCTTT
+ 
 
n=
A/A=
A/G=
G/G=
G=
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
 
3825
PDE
rs17222646
 101531353-1100-1239
CATGTTCCTGTGTTTCTTATAATCC G → A GTAGTTAGATCTAGAATTTGACCAG
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
94
6
0
0.030
200
99
1
0
0.005
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3826
PDE
rs17216128
 101531527-926-1065
ACAAAAGGTTGGGTCAGGTGGGGCA C → A GGTAGCTCATGCCTGCAATCCCAGC
+ 
 
n=
C/C=
C/A=
A/A=
A=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3827
PDE
rs45593436
 101531532-921-1060
AGGTTGGGTCAGGTGGGGCACGGTA G → GG CTCATGCCTGCAATCCCAGCCCTTT
+ 
 
n=
G/G=
G/GG=
GG/GG=
GG=
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
 
3833
PDE
rs7910642
3 pubs		 101531569-884-1023
AATCCCAGCCCTTTGGGAGGCCAAG G → A CAGAAGGATTGTTGAAGCCTGGAGT
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
74
25
1
0.135
200
80
19
1
0.105
60
18
8
4
0.267
20
5
4
1
0.300
14
2
4
1
0.429
Set-I
 
3834
PDE
rs2804402
4 pubs		 101531573-880-1019
CCAGCCCTTTGGGAGGCCAAGGCAG A → G AGGATTGTTGAAGCCTGGAGTTTGA
+ 
 
n=
A/A=
A/G=
G/G=
G=
200
40
47
13
0.365
200
35
44
21
0.430
60
21
8
1
0.167
20
6
4
0
0.200
14
3
3
1
0.357
Set-I
 
3835
PDE
rs17222533
 101531794-659-798
TCTAGCTCAGGCAACAGACCAAGAC C → A CTGTCTCAAAAAACAAAAAACAATA
+ 
 
n=
C/C=
C/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
 
3836
PDE
rs17216135
 101531859-594-733
GGTTGGGTCGATGACAGTTTCTAGC G → A ACTGATGCCACCACTCTGTTTACAG
+ 
 
n=
G/G=
G/A=
A/A=
A=
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: 5UTR
3861
PDE
rs717620
37 pubs		IA101532568116-24
ACAATCATATTAATAGAAGAGTCTT C → T GTTCCAGACGCAGTCCAGGAATCAT
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
88
12
0
0.060
200
64
33
3
0.195
60
22
7
1
0.150
20
7
3
0
0.150
14
3
4
0
0.286
Set-I
Exon: 5UTR
3862
PDE
rs17216156
1 pub		I101532569117-23
CAATCATATTAATAGAAGAGTCTTC G → A TTCCAGACGCAGTCCAGGAATCATG
+ 
 
n=
G/G=
G/A=
A/A=
A=
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
5
2
0
0.143
Set-I
 
4330
PDE
rs17222610
 101534347  
TGTATGCAACAATCCTTCCCCTTTG G → A TCTCCAGAATTCCTCATTCCTGGAC
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
97
2
1
0.020
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
Exon: Coding
4331
PDE
rs927344
I101534437255116
GTTCTGGTGTGGATTCCCTTGGGCT T → A CCTATGGCTCCTGGCCCCCTGGCAG
+39
Phe → Tyr
n=
T/T=
T/A=
A/A=
A=
200
96
4
0
0.020
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
Exon: Coding
4332
PDE
rs17222596
 101534480298159
CCTGGCAGCTTCTCCACGTGTATAA A → G TCCAGGACCAAGAGATCCTCTACCA
+53
Lys = Lys
n=
A/A=
A/G=
G/G=
G=
200
98
2
0
0.010
200
98
2
0
0.010
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3803
PDE
rs17216359
 101542143  
ACCACTTCTGCCCTGTTTACCTTTT C → G ATTACCCATAGGCATCTAGGTGAAA
+ 
 
n=
C/C=
C/G=
G/G=
G=
200
100
0
0
0.000
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
 
3804
PDE
rs17222519
 101544140  
CCTGTCTCCAATTGGTTTACATTTC G → A ATTTTTTTGTGTCTTTCAGAATCCA
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
94
6
0
0.030
200
100
0
0
0.000
58
29
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3805
PDE
rs17222751
 101546814  
AGATAGCCTCTGACCCAGCCTGGGG G → T TCTCAGCCTGTGGTTCGCTCTTGTT
+ 
 
n=
G/G=
G/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
3806
PDE
rs45462493
A101546947875736
ATTAGTGAGCAAGTTTGAAACGCAC A → C TGAAGAGAGAGCTGCAGAAAGCCAG
+246
Met → Leu
n=
A/A=
A/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
3807
PDE
rs17222674
I1015490841137998
TCATTCCTACTGAAGCTAGTGAATG A → G CATCTTCACGTTTGTGAGTCCTCAG
+333
Asp → Gly
n=
A/A=
A/G=
G/G=
G=
200
98
2
0
0.010
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
3808
PDE
rs7080681
2 pubs		I10155015911971058
TTGCTGATCTCCTTTGCAAGTGACC G → A TGACACATATTTGTGGATTGGATAT
+353
Arg → His
n=
G/G=
G/A=
A/A=
A=
200
94
5
1
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
Exon: Coding
3809
PDE
rs17216198
I10155377513581219
CAATCCTTATCTTTAGGCATTGACC C → T TATCCAACTTGGCCAGGAAGGAGTA
+407
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
196
91
7
0
0.036
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
3810
PDE
rs2273697
31 pubs		IA10155380513881249
CAACTTGGCCAGGAAGGAGTACACC G → A TTGGAGAAACAGTGAACCTGATGTC
+417
Val → Ile
n=
G/G=
G/A=
A/A=
A=
200
69
28
3
0.170
200
68
30
2
0.170
60
24
5
1
0.117
20
7
3
0
0.150
14
7
0
0
0.000
Set-I
Exon: Coding
3811
PDE
rs4267009
I10155399015731434
TGGTGCTTGTAATCCCAATTAATGC G → T ATACTGTCCACCAAGAGTAAGACCA
+478
Ala = Ala
n=
G/G=
G/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
3812
PDE
rs17222589
1 pub		 10155401315961457
GCGATACTGTCCACCAAGAGTAAGA C → T CATTCAGGTAAAGAAAAAGTCACCC
+486
Thr → Ile
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
 
3813
PDE
rs17216170
 101555104  
CCTCTCTCATGGAAGCGTATATTGT T → G TTTCTTTTGCTTTTTTCCTGGCAGG
+ 
 
n=
T/T=
T/G=
G/G=
G=
196
97
1
0
0.005
198
99
0
0
0.000
50
25
0
0
0.000
18
9
0
0
0.000
12
5
1
0
0.083
Set-I
Exon: Coding
3814
PDE
rs17222561
 10155514716221483
CTGGCAGGTCAAAAATATGAAGAAT A → G AAGACAAACGTTTAAAGATCATGAA
+495
Lys → Glu
n=
A/A=
A/G=
G/G=
G=
198
99
0
0
0.000
198
98
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
3815
PDE
rs17216233
 10155784718251686
CTTTCCAGGTATCTGTGGTCACATT T → G TCTGTTTATGTCCTGGTGGATAGCA
+562
Phe → Leu
n=
T/T=
T/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
 
3816
PDE
rs8187674
 101558003  
TAGGTCGGCATTCTCACTGCTAACT C → G CCTGTCTCTGGTTAAAAGCCTTGGA
+ 
 
n=
C/C=
C/G=
G/G=
G=
200
82
17
1
0.095
200
100
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3817
PDE
rs17222639
 101559987  
TTTGGTAAATAAATTTGGAAGTTGC T → C TCCCAAACTTATTCGCAGTACTGGT
+ 
 
n=
T/T=
T/C=
C/C=
C=
200
95
5
0
0.025
200
95
5
0
0.025
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3818
PDE
rs17222632
 10156280621482009
ATGGCAGGCCAACTTGTGGCTGTGA T → C AGGCCCTGTCGGCTCTGGGAAATCC
+670
Ile → Thr
n=
T/T=
T/C=
C/C=
C=
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
3819
PDE
rs17222624
 10156287022122073
CCATGCTGGGAGAAATGGAAAATGT C → A CACGGGCACATCACCATCAAGGTGA
+691
Val = Val
n=
C/C=
C/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
 
3820
PDE
rs17216268
I101567267  
TAACAAGGGATCTTCAAGGGTGAAG G → T CATATTGAAGAGAAAAAGTGAGGAT
+ 
 
n=
G/G=
G/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
3837
PDE
rs17222617
 10156894226852546
GAGAAAGGATCCTACAGTGCTCTCC T → G GGCCAAAAAAGGAGAGTTTGCTAAG
+849
Leu → Arg
n=
T/T=
T/G=
G/G=
G=
194
96
1
0
0.005
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
 
3863
PDE
rs17222730
 101580209  
GGCTATCTATTCAGCTGGCAGCCCT C → A GTCAGCTCTATATTTCCACTTGATC
+ 
 
n=
C/C=
C/A=
A/A=
A=
184
92
0
0
0.000
184
92
0
0
0.000
50
24
1
0
0.020
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3864
PDE
rs17216352
 101580372  
TCCCCTGGTCATCTGCCCTGAAATG C → T GCTTTGATGCCAGCTGAGTGACTGT
+ 
 
n=
C/C=
C/T=
T/T=
T=
198
97
2
0
0.010
200
100
0
0
0.000
56
28
0
0
0.000
18
9
0
0
0.000
14
7
0
0
0.000
Set-I
 
3865
PDE
rs17222737
 101580450  
GAATTGCCTGCATGCTCAGGGAAGC T → G TCCCTCTCTCAGTTCTAGGTCCAAT
+ 
 
n=
T/T=
T/G=
G/G=
G=
196
97
1
0
0.005
196
98
0
0
0.000
56
28
0
0
0.000
18
9
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3828
PDE
rs17222547
I10158137530402901
CTTTGCAGGTGAAGTTCTCCATCTA C → A CTGGAGTACCTACAAGCAATAGGAT
+967
Tyr → STOP
n=
C/C=
C/A=
A/A=
A=
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
Exon: Coding
3829
PDE
rs3740070
I10158140830732934
ACCTACAAGCAATAGGATTGTTTTC G → A ATATTCTTCATCATCCTTGCGTTTG
+978
Ser = Ser
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
198
99
0
0
0.000
60
26
4
0
0.067
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3830
PDE
rs17222554
 10158141830832944
AATAGGATTGTTTTCGATATTCTTC A → G TCATCCTTGCGTTTGTGATGAATTC
+982
Ile → Val
n=
A/A=
A/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
Exon: Coding
3831
PDE
rs45441199
 10158172732463107
ACAAAACTGCTTCCATCTCTAGGTA T → C ATTTGTGTTCATAGCACATTTCTGG
+1036
Ile → Thr
n=
T/T=
T/C=
C/C=
C=
200
99
1
0
0.005
198
98
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
3832
PDE
rs17222540
 10158180833273188
ATCTTGCACAAGCAACTGCTGAACA A → G TATCCTTCGAGCACCTATGAGATTT
+1063
Asn → Ser
n=
A/A=
A/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
Exon: Coding
3838
PDE
rs17216345
 10158426435353396
CCATCATCGTCATTCCTCTTGGCAT T → C ATTTATGTATCTGTTCAGGTAGGTT
+1132
Ile = Ile
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
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
 
3839
PDE
rs17222709
 101585805  
AAGATGGTGGATGCCTCATGACTGC G → A GGACTGGCTGATTCTTTACTTTTTG
+ 
 
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
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
3840
PDE
rs8187692
1 pub		I10158596536813542
ATCCGTGCCTTTGAGCACCAGCAGC G → T ATTTCTGAAACACAATGAGGTGAGG
+1181
Arg → Leu
n=
G/G=
G/T=
T/T=
T=
200
83
17
0
0.085
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
3841
PDE
rs17216324
1 pub		 10158598437003561
AGCAGCGATTTCTGAAACACAATGA G → A GTGAGGATTGACACCAACCAGAAAT
+1187
Glu = Glu
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
3842
PDE
rs17222723
10 pubs		I10158598637023563
CAGCGATTTCTGAAACACAATGAGG T → A GAGGATTGACACCAACCAGAAATGT
+1188
Val → Glu
n=
T/T=
T/A=
A/A=
A=
200
88
11
1
0.065
200
86
13
1
0.075
60
30
0
0
0.000
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3843
PDE
rs17222716
 101586043  
TCCTGGATCACCTCCAACAGGTGAG G → C CTTCCCCTGGGTATTTACCCATGTG
+ 
 
n=
G/G=
G/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
 
3844
PDE
rs17216331
 101591694  
GGACGTGATCAGTGACACGCACTCT C → T TGGTTCTGTTGCCCCACAGGTGGCT
+ 
 
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
198
97
2
0
0.010
60
30
0
0
0.000
20
10
0
0
0.000
12
6
0
0
0.000
Set-I
 
3845
PDE
rs17216338
 101591870  
GTTTGAAGGTTGGGAGTTTGGTTTC G → A TTAGTGTGCTTATTCTTAAATTAAG
+ 
 
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
 
3846
PDE
rs17216177
A101593512  
GAGTGGTTGAGTTGGTTTCTGTGCC T → C ATGATGATTTTCAGTCTTCTGGTTT
+ 
 
n=
T/T=
T/C=
C/C=
C=
200
54
42
4
0.250
194
65
31
1
0.170
56
27
1
0
0.018
20
9
1
0
0.050
14
6
1
0
0.071
Set-I
Exon: Coding
3847
PDE
rs8187699
IA10159362139563817
CAACATTGTGGCTGTTGAGCGAATA A → G CTGAGTACACAAAAGTGGAAAATGA
+1273
Thr → Ala
n=
A/A=
A/G=
G/G=
G=
200
98
2
0
0.010
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
Exon: Coding
3848
PDE
rs17216317
 10159409740113872
CCCTGGGTGACTGATAAGAGGCCTC C → T GCCAGATTGGCCCAGCAAAGGCAAG
+1291
Pro → Leu
n=
C/C=
C/T=
T/T=
T=
194
93
4
0
0.021
196
97
1
0
0.005
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3849
PDE
rs3740066
24 pubs		 10159419741113972
TCCTCAGAGGGATCACTTGTGACAT C → T GGTAGCATGGAGAAGGTAGGTGGAG
+1324
Ile = Ile
n=
C/C=
C/T=
T/T=
T=
194
51
39
7
0.273
196
40
41
17
0.383
58
18
11
0
0.190
20
5
5
0
0.250
14
2
5
0
0.357
Set-I
 
3850
PDE
rs17216310
 101594233  
AGAAGGTAGGTGGAGTGAAGGAAGG C → T CTGGATGGGAGGCCTTGTGATCAAA
+ 
 
n=
C/C=
C/T=
T/T=
T=
180
90
0
0
0.000
188
91
3
0
0.016
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3851
PDE
rs17216275
 10159544542014062
GCCTCTTCAGAATCTTAGAGGCTGC C → T GGTGGTCAGATTATCATTGATGGAG
+1354
Ala = Ala
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
Exon: Coding
3852
PDE
rs7899457
IA10159549342494110
GAGTAGATATTGCTTCCATTGGGCT C → T CACGACCTCCGAGAGAAGCTGACCA
+1370
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
200
84
14
2
0.090
200
100
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3853
PDE
rs17216282
A101595540  
ACCATCATCCCCCAGGTGAGCTCTA G → C AACTTACTCGGGCACATGCCGTGGG
+ 
 
n=
G/G=
G/C=
C/C=
C=
200
88
11
1
0.065
200
86
13
1
0.075
60
30
0
0
0.000
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3854
PDE
rs3740064
I101596673  
GAACTCCGAGGTCCTTTTCTGGCAT G → A AGCCCCAACAGCCCCCTTGTCCTTT
+ 
 
n=
G/G=
G/A=
A/A=
A=
188
69
23
2
0.144
184
87
5
0
0.027
60
29
1
0
0.017
20
6
4
0
0.200
14
7
0
0
0.000
Set-I
Exon: Coding
3855
PDE
rs17216296
1 pub		I10159680343814242
TTTGGAAGGCCTTGGAGCTGGCTCA C → T CTCAAGTCTTTTGTGGCCAGCCTGC
+1414
His = His
n=
C/C=
C/T=
T/T=
T=
192
95
1
0
0.005
190
95
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
3856
PDE
rs1137968
I10159685144294290
TGCAACTTGGGTTATCCCACGAAGT G → T ACAGAGGCTGGTGGCAACCTGAGGT
+1430
Val = Val
n=
G/G=
G/T=
T/T=
T=
192
82
13
1
0.078
190
82
12
1
0.074
60
30
0
0
0.000
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3857
PDE
rs17222681
 101596885  
TGGTGGCAACCTGAGGTAATGTTCC A → C TAGCCTGCTACCCCTGCAGGCAATG
+ 
 
n=
A/A=
A/C=
C/C=
C=
192
95
1
0
0.005
190
95
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
3858
PDE
rs8187706
I10160044545494410
AGGCCACTGCTGCGGTGGATCTAGA G → A ACAGACAACCTCATTCAGACGACCA
+1470
Glu = Glu
n=
G/G=
G/A=
A/A=
A=
198
72
25
2
0.146
200
93
7
0
0.035
60
29
1
0
0.017
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
3859
PDE
rs8187707
1 pub		I10160052346274488
TGATCACCATCGCCCACAGGCTGCA C → T ACCATCATGGACAGTGACAAGTGAG
+1496
His = His
n=
C/C=
C/T=
T/T=
T=
198
92
7
0
0.035
200
88
12
0
0.060
60
29
1
0
0.017
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3860
PDE
rs17216212
 101600555  
ATGGACAGTGACAAGTGAGTGTAGG G → A GGACAGGGCTTGACACGGATGGCTT
+ 
 
n=
G/G=
G/A=
A/A=
A=
198
86
12
1
0.071
200
86
14
0
0.070
60
29
1
0
0.017
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
Exon: Coding
3921
PDE
rs8187709
I10160126746664527
GTTTCAGGGTAATGGTCCTAGACAA C → T GGGAAGATTATAGAGTGCGGCAGCC
+1509
Asn = Asn
n=
C/C=
C/T=
T/T=
T=
194
96
1
0
0.005
198
97
2
0
0.010
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3922
PDE
rs8187710
12 pubs		I10160128446834544
CTAGACAACGGGAAGATTATAGAGT G → A CGGCAGCCCTGAAGAACTGCTACAA
+1515
Cys → Tyr
n=
G/G=
G/A=
A/A=
A=
194
63
30
4
0.196
198
84
14
1
0.081
58
29
0
0
0.000
20
9
1
0
0.050
14
6
1
0
0.071
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.
Copyright 2009, UCSF Pharmacogenetics of Membrane Transporters. All rights reserved.