UCSF Pharmacogenetics of Membrane Transporters
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Common Name:MDR1
HGNC Symbol:ABCB1
HGNC Description:ATP-binding cassette, sub-family B (MDR/TAP), member 1
HGNC ID:40
Chromosome:Chr.7(-): 86970884-87180500
Location:7q21.12
OMIM:171050
OMIM Phenotype:Colchicine resistance, Crohn disease
Accessions:AF016535, M14758
Nucleotide RefSeq:NM_000927
Protein RefSeq:NP_000918
Entrez:5243
Isoforms:1
Evidence:Substrate In Vitro Evidence: Substrates P-gp antagonists Inhibitors Daunorubicin Verapamil Ketoconazole Doxorubicin Triflouperazine Progesterone Bisantrene Chlorpromazine Midazolam Mitoxantrone Quinidine Testosterone Vinblastine Propafeneone Vincristine Propranolol CPT-11 Reserpine Topotecan Progesterone Etoposide Tamoxifen Teniposide Cyclosporin A Colchicine Valinomycin Paclitaxel Promethazine Ritonavir Terfenadine Indinavir Mefloquine Calcein-AM Quinine Rhodamine 123 Amitriptyline Hoechst 33342 GF120918 Digoxin Dipyridamole Fexofenadine Cortisol Morphine Loperamide Ivermectin Review Article. Litman T, et al. Cell. Mol. Life Sci. 2001; 58: 931-59. Tissue Distribution Evidence: Liver Kidney Blood brain barrier Adrenal gland Colon Small Intestine Placenta Lymphocytes Pancreas
Tissues:Liver, Kidney, Blood brain barrier, Adrenal gland, Colon, Small Intestine, Placenta, Lymphocytes, Pancreas
Type:protein coding
Sets:I,IV
PharmGKB ID:PA267
HPRD ID:01370
Substrates:Substrates: Daunorubicin, Doxorubicin, Bisantrene, Mitoxantrone, Vinblastine, Vincristine, CPT-11, Topotecan, Etoposide, Teniposide, Colchicine, Paclitaxel, Ritonavir, Indinavir, Calcein-AM, Rhodamine 123, Hoechst 33342, Digoxin, Fexofenadine, Cortisol, Morphine, Loperamide, Ivermectin; P-gp antagonists: Verapamil, Triflouperazine, Chlorpromazine, Quinidine, Propafeneone, Propranolol, Reserpine, Progesterone, Tamoxifen, Cyclosporin A, Valinomycin, Promethazine, Terfenadine, Mefloquine, Quinine, Amitriptyline, GF120918, Dipyridamole; Inhibitors: Ketoconazole, Progesterone, Midazolam, Testosterone
Trivial Names:CLCS, MDR1, P-gp, PGY1, ABC20, CD243, GP170, MGC163296
Transcripts:NM_000927 [Chr.7(-): 86970884-87180500]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCB1 Resequencing
MDR1 Loperamide
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCB1 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
 
4167
rs28381715
 87180835-335-113399
CATGGCTTAGGGATTGGGGTATAAT T → G GAAAAATAGCCAGAGTTGAGAAGTT
+ 
 
n=
T/T=
T/G=
G/G=
G=
130
65
0
0
0.000
92
46
0
0
0.000
128
57
7
0
0.055
126
61
2
0
0.016
n/a
0.000
PMT-272
 
4166
 87180786-286-113350
GACGTCTTAATGAGCAGTTGAAAAA A → - CAAACAAAAACCTCGAAGAGTTACA
+ 
 
n=
A/A=
A/-=
-/-=
-=
130
65
0
0
0.000
92
46
0
0
0.000
130
64
1
0
0.008
126
63
0
0
0.000
n/a
0.000
PMT-272
Promoter
4165
rs4148727
I87180702-202-113266
AGTAGAGATAAAATAAATTTTGAGT A → G CATGACTATGGCTCCAAAGCATTGA
+ 
 
n=
A/A=
A/G=
G/G=
G=
130
56
9
0
0.069
92
42
4
0
0.043
130
56
8
1
0.077
126
56
7
0
0.056
n/a
0.000
PMT-272
Promoter
4164
rs3747802
 87180522-22-113086
AATAAAGTAGATTTCTTCATGTTCT A → G CTCTTCACAGGTAAAGAGTAATGAT
+ 
 
n=
A/A=
A/G=
G/G=
G=
130
65
0
0
0.000
92
46
0
0
0.000
130
58
7
0
0.054
126
61
2
0
0.016
n/a
0.000
PMT-272
 
3707
PDE
rs35462624
 87068604 -1168
ATAAAGGATGAACAGATGTAACTCA G → A AAACTGTCAAGCATGCTGAAGAAAG
- 
 
n=
G/G=
G/A=
A/A=
A=
192
93
3
0
0.016
188
94
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3708
PDE
rs34762047
 87068553 -1117
ACCACTGCAGAAAAATTTCTCCTAG C → T CTTTTCAAAGGTGTTAGGAAGCAGA
- 
 
n=
C/C=
C/T=
T/T=
T=
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
 
3709
PDE
rs28381799
I87068476 -1040
GAGTTTTTGTATTAACTGTATTAAA T → C GCGAATCCCGAGAAAATTTCCCTTA
- 
 
n=
T/T=
T/C=
C/C=
C=
198
98
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
 
3710
PDE
rs28381800
 87068390 -954
TGTGAACTTTGAAAGACGTGTCTAC A → T TAAGTTGAAATGTCCCCAATGATTC
- 
 
n=
A/A=
A/T=
T/T=
T=
198
98
0
1
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
 
3711
PDE
rs2188524
1 pub		I87068371 -935
GTCTACATAAGTTGAAATGTCCCCA A → G TGATTCAGCTGATGCGCGTTTCTCT
- 
 
n=
A/A=
A/G=
G/G=
G=
198
99
0
0
0.000
198
99
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
3677
PDE
rs35265821
 87068241178-805
AATCAGCATTCAGTCAATCCGGGCC G → A GGAGCAGTCATCTGTGGTGAGGCTG
- 
 
n=
G/G=
G/A=
A/A=
A=
196
98
0
0
0.000
198
99
0
0
0.000
52
25
1
0
0.019
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: 5UTR
3678
PDE
rs34976462
 87068145274-709
GCTTCGCTCTCTTTGCCACAGGAAG C → G CTGAGCTCATTCGAGTAGCGGCTCT
- 
 
n=
C/C=
C/G=
G/G=
G=
196
98
0
0
0.000
198
99
0
0
0.000
56
27
1
0
0.018
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: 5UTR
2863
PDE
rs3213619
27 pubs		I87068129290-693
CACAGGAAGCCTGAGCTCATTCGAG T → C AGCGGCTCTTCCAAGCTCAAAGAAG
- 
 
n=
T/T=
T/C=
C/C=
C=
196
86
10
2
0.071
198
89
10
0
0.051
56
26
2
0
0.036
20
9
0
1
0.100
14
6
1
0
0.071
Set-I
Exon: 5UTR
3679
PDE
rs28381801
I87068043376-607
CTAAAGTCGGAGTATCTTCTTCCAA A → G ATTTCACGTCTTGGTGGCCGTTCCA
- 
 
n=
A/A=
A/G=
G/G=
G=
196
94
4
0
0.020
198
99
0
0
0.000
56
26
2
0
0.036
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3705
PDE
rs28381802
I87067867 -431
AAGTCCTCTGGCAAGTCCATGGGGA C → A CAAGTGGGGTTAGATCTAGACTCAG
- 
 
n=
C/C=
C/A=
A/A=
A=
190
91
4
0
0.021
190
94
1
0
0.005
58
29
0
0
0.000
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3706
PDE
rs34868164
 87067770 -334
GCCCGGAGCGCGCACAGCCCGCGCG G → A TGCGGGGACCTGCTCTCTGAGCCCG
- 
 
n=
G/G=
G/A=
A/A=
A=
190
94
0
1
0.011
190
95
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: 5UTR
3680
PDE
rs34834348
 87067440415-4
AATGAGCTGCGGTTTCTCTTCAGGT C → T GGGATGGATCTTGAAGGGGACCGCA
- 
 
n=
C/C=
C/T=
T/T=
T=
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: 5UTR
2864
PDE
rs2214102
5 pubs		I87067437418-1
GAGCTGCGGTTTCTCTTCAGGTCGG G → A ATGGATCTTGAAGGGGACCGCAATG
- 
 
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
85
14
1
0.080
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
2865
PDE
rs9282564
9 pubs		IA8706737647961
GAAGAAGAACTTTTTTAAACTGAAC A → G ATAAAAGGTAACTAGCTTGTTTCAT
-21
Asn → Asp
n=
A/A=
A/G=
G/G=
G=
200
95
5
0
0.025
200
85
14
1
0.080
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3681
PDE
rs34455904
 87052940  
TTTCCTCTGCTATTCTTTTTTCTCT C → G TTTTTAGTTTCGCTATTCAAATTGG
- 
 
n=
C/C=
C/G=
G/G=
G=
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
3682
PDE
rs35810889
1 pub		 87052784684266
AATGCAGGAAATTTAGAAGATCTGA T → C GTCAAACATCACTAATAGAAGTAAG
-89
Met → Thr
n=
T/T=
T/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
 
2866
PDE
rs2235015
I87037500  
AATGGAGACTAAAGAGACATAAATG G → T TATGTTTGTTTTGTGGTGGTCTAGG
- 
 
n=
G/G=
G/T=
T/T=
T=
200
53
34
13
0.300
196
69
27
2
0.158
60
26
4
0
0.067
20
6
4
0
0.200
14
3
4
0
0.286
Set-I
Exon: Coding
3683
PDE
rs2235022
I870286131147729
TACTATCTTCATTTACTGATAAAGA A → G CTCTTAGCGTATGCAAAAGCTGGAG
-243
Glu = Glu
n=
A/A=
A/G=
G/G=
G=
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
3684
PDE
rs36008564
 870285611199781
AGTAGCTGAAGAGGTCTTGGCAGCA A → G TTAGAACTGTGATTGCATTTGGAGG
-261
Ile → Val
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
 
2867
PDE
rs10276036
IA87018134  
AGAAGAAGTATGAAAAAAAATTGCT A → G TCACTATCTCAGTAGCCTGATGGTT
- 
 
n=
A/A=
A/G=
G/G=
G=
200
54
41
5
0.255
200
31
48
21
0.450
54
5
7
15
0.685
20
4
3
3
0.450
14
0
6
1
0.571
Set-I
 
3712
PDE
rs2235029
I87017871  
TCCACAAAATATCACTAAAAGTAGT T → G ATTGTAACCTAGTAATCTCTTAAAA
- 
 
n=
T/T=
T/G=
G/G=
G=
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
3713
PDE
rs2229109
17 pubs		IA8701774516171199
TTGGAATTCAGAAATGTTCACTTCA G → A TTACCCATCTCGAAAAGAAGTTAAG
-400
Ser → Asn
n=
G/G=
G/A=
A/A=
A=
200
98
2
0
0.010
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
 
3685
PDE
rs2032586
I87017552  
TGAAGTTTTTTTCTCACTCGTCCTG G → A TAGATCTTGAAGGGCCTGAACCTGA
- 
 
n=
G/G=
G/A=
A/A=
A=
180
89
1
0
0.006
188
94
0
0
0.000
52
26
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
2868
PDE
rs1128503
116 pubs		I8701753716541236
ACTCGTCCTGGTAGATCTTGAAGGG C → T CTGAACCTGAAGGTGCAGAGTGGGC
-412
Gly = Gly
n=
C/C=
C/T=
T/T=
T=
196
60
35
3
0.209
194
29
47
21
0.459
54
5
7
15
0.685
20
4
3
3
0.450
14
0
6
1
0.571
Set-I
Exon: Coding
3686
PDE
rs35068177
1 pub		 8701746517261308
ACAGTGGCTGTGGGAAGAGCACAAC A → G GTCCAGCTGATGCAGAGGCTCTATG
-436
Thr = Thr
n=
A/A=
A/G=
G/G=
G=
196
97
1
0
0.005
194
97
0
0
0.000
54
27
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3687
PDE
rs34767983
 87017406  
GAGGGGATGGTGAGATGACCCATGC G → A AGCTAGACCCTGCGGTGATCAGCAG
- 
 
n=
G/G=
G/A=
A/A=
A=
196
94
4
0
0.020
194
97
0
0
0.000
54
27
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3688
PDE
rs2032588
A87017379  
GCTAGACCCTGCGGTGATCAGCAGT C → T ACATTGCACATCTTTCTGATGTTGC
- 
 
n=
C/C=
C/T=
T/T=
T=
196
68
27
3
0.168
194
88
9
0
0.046
54
27
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
2986
PDE
rs2235033
IA87017079  
ATGTAAGTTGTCCTTGCCCTTTGCC C → T TTCTAGAGGTGCAAAAAATAAAATG
- 
 
n=
C/C=
C/T=
T/T=
T=
192
26
36
34
0.542
190
20
51
24
0.521
50
9
5
11
0.540
20
4
3
3
0.450
14
0
6
1
0.571
Set-I
Exon: Coding
3689
PDE
rs35633772
 8701670820351617
TGAGTGGTGGGCAGAAGCAGAGGAT C → T GCCATTGCACGTGCCCTGGTTCGCA
-539
Ile = Ile
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
196
97
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
2869
PDE
rs2235013
I87016562  
TAGTTCAAACCAACCTGATTTATAA A → G CATAAGAACATTCTACTACTAATTC
- 
 
n=
A/A=
A/G=
G/G=
G=
200
25
42
33
0.540
186
21
50
22
0.505
60
5
9
16
0.683
20
4
3
3
0.450
14
0
7
0
0.500
Set-I
 
3690
PDE
rs28381916
 87013077  
TTCAGAATTTTCCTAAGTCATCTCA G → A TGATAAACTGATTTTGCATTTAATG
- 
 
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
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
3691
PDE
rs35657960
1 pub		 8701215424031985
TCTTCAAATGATTCAAGATCCAGTC T → G AATAAGAAAAAGATCAACTCGTAGG
-662
Leu → Arg
n=
T/T=
T/G=
G/G=
G=
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
3692
PDE
rs35023033
2 pubs		 8701213424232005
CAGTCTAATAAGAAAAAGATCAACT C → T GTAGGAGTGTCCGTGGATCACAAGC
-669
Arg → Cys
n=
C/C=
C/T=
T/T=
T=
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
 
3693
PDE
rs2235063
I87008743  
GGATGGGTTCTTCACTGATTGAACT A → G AAAATCCTTTAAATGTTTTCTCACA
- 
 
n=
A/A=
A/G=
G/G=
G=
200
99
1
0
0.005
200
98
2
0
0.010
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3694
PDE
rs34350171
 87003702  
GCTGCTCAAGTTAAAGGGGTACGTG C → G CTCCTTTCTACTGGTGTTTGTCTTA
- 
 
n=
C/C=
C/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
 
2870
PDE
rs2235040
IA87003686  
GGGTACGTGCCTCCTTTCTACTGGT G → A TTTGTCTTAATTGGCCATTTTGGAC
- 
 
n=
G/G=
G/A=
A/A=
A=
200
73
24
3
0.150
198
76
22
1
0.121
60
26
4
0
0.067
20
6
4
0
0.200
14
7
0
0
0.000
Set-I
 
3695
PDE
rs2235041
IA87003670  
TCTACTGGTGTTTGTCTTAATTGGC C → T ATTTTGGACCCCAGCATGAAACTAA
- 
 
n=
C/C=
C/T=
T/T=
T=
200
93
7
0
0.035
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
3696
PDE
rs36105130
1 pub		 8699868429652547
CAAATCTTGGGACAGGAATAATTAT A → G TCCTTCATCTATGGTTGGCAACTAA
-849
Ile → Met
n=
A/A=
A/G=
G/G=
G=
200
100
0
0
0.000
196
97
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
3697
PDE
rs9282563
I8699858130682650
AATGAAAATGTTGTCTGGACAAGCA C → T TGAAAGATAAGAAAGAACTAGAAGG
-884
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
196
97
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
2871
PDE
rs2032582
257 pubs		I8699855430952677

G → A, T
GAAAGATAAGAAAGAACTAGAAGGT G → A CTGGGAAGGTGAGTCAAACTAAATA
GAAAGATAAGAAAGAACTAGAAGGT G → T CTGGGAAGGTGAGTCAAACTAAATA
-893

 
Ala → Thr
Ala → Ser
n=
G/G=
G/A=
A/A=
G/T=
T/T=
A/T=
A=
T=
200
82
0
0
15
2
1
0.005
0.100
196
27
3
1
41
24
2
0.036
0.464
60
7
2
0
13
6
2
0.067
0.450
20
4
0
0
4
2
0
0.000
0.400
14
0
2
0
2
0
3
0.357
0.357
Set-I
 
3698
PDE
rs28401776
 86987997  
AACCGCTGAAGAGTGGGAGGAGAGT G → A TGAATAATTTTTCAATCATCATATT
- 
 
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
3699
PDE
rs28401798
1 pub		 8698261435693151
CAACTATCCCACCCGACCGGACATC C → G CAGTGCTTCAGGGACTGAGCCTGGA
-1051
Pro → Ala
n=
C/C=
C/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
Exon: Coding
3700
PDE
rs35730308
1 pub		 8697669437403322
AGAAATAAAGCGACTGAATGTTCAG T → C GGCTCCGAGCACACCTGGGCATCGT
-1108
Trp → Arg
n=
T/T=
T/C=
C/C=
C=
198
98
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
3701
PDE
rs2229107
2 pubs		IA8697659538393421
CTATGGAGACAACAGCCGGGTGGTG T → A CACAGGAAGAGATCGTGAGGGCAGC
-1141
Ser → Thr
n=
T/T=
T/A=
A/A=
A=
198
80
16
3
0.111
198
99
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
2872
PDE
rs1045642
445 pubs		IA8697658138533435
GCCGGGTGGTGTCACAGGAAGAGAT C → T GTGAGGGCAGCAAAGGAGGCCAACA
-1145
Ile = Ile
n=
C/C=
C/T=
T/T=
T=
198
64
30
5
0.202
198
21
45
33
0.561
60
12
12
6
0.400
20
3
4
3
0.500
14
2
3
2
0.500
Set-I
Exon: Coding
3702
rs28364274
2 pubs		I8697158741693751
AATAGTGGTGTTTCAGAATGGCAGA G → A TCAAGGAGCATGGCACGCATCAGCA
-1251
Val → Ile
n=
G/G=
G/A=
A/A=
A=
194
97
0
0
0.000
198
99
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
3703
PDE
rs35721439
 8697157141853767
AATGGCAGAGTCAAGGAGCATGGCA C → A GCATCAGCAGCTGCTGGCACAGAAA
-1256
Thr → Lys
n=
C/C=
C/A=
A/A=
A=
194
97
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: 3UTR
3704
PDE
rs28364275
1 pub		I869714744282 
AGTGAACTCTGACTGTATGAGATGT T → C AAATACTTTTTAATATTTGTTTAGA
- 
 
n=
T/T=
T/C=
C/C=
C=
200
84
16
0
0.080
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: 3UTR
5281
PDE
rs61473597
 869714184338 
CATTTATTCAAAGTTAAAAGCAAAC A → - CTTACAGAATTATGAAGAGGTATCT
- 
 
n=
A/A=
A/-=
-/-=
-=
200
87
12
1
0.070
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
Exon: 3UTR
5282
PDE
rs61565026
 869714174339 
ATTTATTCAAAGTTAAAAGCAAACA C → - TTACAGAATTATGAAGAGGTATCTG
- 
 
n=
C/C=
C/-=
-/-=
-=
200
87
12
1
0.070
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
Exon: 3UTR
5283
PDE
rs57876243
I869714164340 
TTTATTCAAAGTTAAAAGCAAACAC T → - TACAGAATTATGAAGAGGTATCTGT
- 
 
n=
T/T=
T/-=
-/-=
-=
200
87
12
1
0.070
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
Exon: 3UTR
5284
PDE
rs57792825
 869714154341 
TTATTCAAAGTTAAAAGCAAACACT T → - ACAGAATTATGAAGAGGTATCTGTT
- 
 
n=
T/T=
T/-=
-/-=
-=
200
87
12
1
0.070
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
Exon: 3UTR
5285
PDE
rs17064
1 pub		I869714064350 
GTTAAAAGCAAACACTTACAGAATT A → T TGAAGAGGTATCTGTTTAACATTTC
- 
 
n=
A/A=
A/T=
T/T=
T=
200
79
20
1
0.110
200
87
13
0
0.065
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: 3UTR
5286
PDE
rs28364277
1 pub		I869713494407 
CAAGTTCAGAGTCTTCAGAGACTTC G → A TAATTAAAGGAACAGAGTGAGAGAC
- 
 
n=
G/G=
G/A=
A/A=
A=
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
Exon: 3UTR
5287
 869713274429 
TTCGTAATTAAAGGAACAGAGTGAG A → AGACAGAGA GACATCATCAAGTGGAGAGAAATCA
- 
 
n=
A/A=
A/AGACAGAGA=
AGACAGAGA/AGACAGAGA=
AGACAGAGA=
200
81
19
0
0.095
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: 3UTR
5288
PDE
rs3842
3 pubs		I869713024454 
AGACATCATCAAGTGGAGAGAAATC A → G TAGTTTAAACTGCATTATAAATTTT
- 
 
n=
A/A=
A/G=
G/G=
G=
200
76
22
2
0.130
200
73
26
1
0.140
60
22
7
1
0.150
20
9
1
0
0.050
14
0
4
3
0.714
Set-I
Exon: 3UTR
5289
PDE
rs28364279
1 pub		I869712434513 
ATTAAAGTAGATTTTAAAAGATAAA A → C TGTGTAATTTTGTTTATATTTTCCC
- 
 
n=
A/A=
A/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
Exon: 3UTR
5290
PDE
rs28364280
1 pub		I869711794577 
CTGACTGCCTTGCTAAAAGATTATA G → A AAGTAGCAAAAAGTATTGAAATGTT
- 
 
n=
G/G=
G/A=
A/A=
A=
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: 3UTR
5291
PDE
rs57126620
 869711404616 
TATTGAAATGTTTGCATAAAGTGTC T → C ATAATAAAACTAAACTTTCATGTGA
- 
 
n=
T/T=
T/C=
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
Exon: 3UTR
5292
PDE
rs41297348
 869711024654 
AACTTTCATGTGACTGGAGTCATCT T → C GTCCAAACTGCCTGTGAATATATCT
- 
 
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
99
1
0
0.005
60
28
2
0
0.033
20
10
0
0
0.000
14
7
0
0
0.000
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.