UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:MRP3
HGNC Symbol:ABCC3
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 3
HGNC ID:54
Chromosome:Chr.17(+): 46067227-46124062
Location:17q22
OMIM:604323
OMIM Phenotype:None
Accessions:AF009670, AF085690
Nucleotide RefSeq:NM_003786
Protein RefSeq:NP_003777
Entrez:8714
Isoforms:2
Evidence:Substrate In Vitro Evidence: Epipodophyllotoxins Methotraxate - Drug resistence of MDCKII transfected with ABCC3. Kool M, et al. PNAS. 1999; 96: 6914-9. Vincristine Etoposide - Drug resistance of HEK-293 transfected with ABCC3. Zeng H, et al. Cancer Research. 1999; 59: 5964-5967. Estradiol 17-[pic]-D-glucuronide KM = 25 uM DNP-SG KM = 5.7 uM LTC4 KM = 5.3 uM - Membrane vesicles. Zeng H, et al. Cancer Research. 2000; 60: 4779-84. Glycocholate Glycochenodeoxycholate Taurodeoxycholate Taurochenodeoxycholate - Inside-out vesicles measuring estradiol 17-[pic]-D-glucuronide transport. Bodo A. JBC. 2003; 278: 23529-37. Glucuronides Substrate In Vivo Evidence: Gemfibrozil - Mrp2 deficient rats. Kim MS, et al. Xenobiotica. 2003 Oct;33(10):1027-42. Tissue Distribution Evidence: Adrenal gland >> Liver 1. TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. Adrenal gland, Kidney, Colon, Pancreas, Gallbladder, Liver 1. Western Blot and Immunohistochemistry. Scheffer GL, et al. Lab. Invest. 2002; 82:193-201.
Tissues:Adrenal gland, Kidney, Colon, Pancreas, Gallbladder, Liver
Type:protein coding
Sets:II,IV
PharmGKB ID:PA376
HPRD ID:06826
Substrates:Epipodophyllotoxins, Methotraxate, Vincristine, Etoposide, Estradiol 17-Beta-D-glucuronide, DNP-SG, LTC4, Glycocholate, Glycochenodeoxycholate, Taurodeoxycholate, Taurochenodeoxycholate, Glucuronides, Gemfibrozil
Trivial Names:MLP2, MRP3, ABC31, MOAT-D, cMOAT2, EST90757, DKFZp686E22157
Transcripts:NM_003786 [Chr.17(+): 46067217-46124062]
NM_001144070 [Chr.17(+): 46067217-46100287]
ABCC3 RESEQUENCING
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Study Name:ABCC3 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
Promoter
2995
PDE
 46067037-180-260
GTATTTAGAGAGACATCCCCCTGGC T → A TGGCCCAGGGGCCGCTCGCAGGGGC
+ 
 
n=
T/T=
T/A=
A/A=
A=
80
25
11
4
0.237
100
41
8
1
0.100
98
46
3
0
0.031
56
23
5
0
0.089
n/a
0.000
PMT-272
Promoter
2996
PDE
6 pubs 46067086-131-211
GCTGTCGCCGTGCCAAGGGCCCCCC C → T ACCTCTGCCCCAAAGTCCCTCCCAG
+ 
 
n=
C/C=
C/T=
T/T=
T=
80
8
21
11
0.537
100
11
22
17
0.560
98
0
7
42
0.929
56
6
14
8
0.536
n/a
0.000
PMT-272
Exon: Coding
4414
PDE
1 pub 4606732811232
GCCCTGTGCGGTTCCGGGGAGCTCG G → A CTCCAAGTTCTGGGTAAGGCGCGGG
+11
Gly → Asp
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
4415
PDE
1 pub 46088348282202
TTGTCGTGGCTACATCATCCTCTCC C → T ACCTGTCCAAGCTCAAGATGGTCAG
+68
His → Tyr
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
158
78
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4416
PDE
 46088436  
GGGATTCTGCTTTTATTTTTTAATT T → A AATTAAATTAATTAATTAATTAATT
+ 
 
n=
T/T=
T/A=
A/A=
A=
160
80
0
0
0.000
158
77
1
1
0.019
120
60
0
0
0.000
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4417
PDE
 46088443  
TGCTTTTATTTTTTAATTTAATTAA A → - TTAATTAATTAATTAATTTAGAGAC
+ 
 
n=
A/A=
A/-=
-/-=
-=
160
80
0
0
0.000
158
79
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4418
PDE
 46088471  
AATTAATTAATTAATTTAGAGACAG A → - GTCTCACTCTGTCGCCCAGGCTGGA
+ 
 
n=
A/A=
A/-=
-/-=
-=
160
80
0
0
0.000
158
79
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4419
PDE
 46088472  
ATTAATTAATTAATTTAGAGACAGA G → - TCTCACTCTGTCGCCCAGGCTGGAG
+ 
 
n=
G/G=
G/-=
-/-=
-=
160
80
0
0
0.000
158
79
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4420
PDE
 46088520  
GAGTGCAGTGGCATGATCTTGGCTC A → G CTGCAACCTCTGCCTTCTGGGTTCA
+ 
 
n=
A/A=
A/G=
G/G=
G=
160
68
10
2
0.087
158
79
0
0
0.000
116
58
0
0
0.000
100
49
1
0
0.010
8
4
0
0
0.000
Set-II
Exon: Coding
4421
PDE
1 pub 46089135376296
TCCTTCCATGGCCTGGTCCATGGCC G → A GGCCCCTGCCCCTGTTTTCTTTGTC
+99
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
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
Exon: Coding
4422
PDE
 46089172413333
CTGTTTTCTTTGTCACCCCCTTGGT G → A GTGGGGGTCACCATGGTCAGTGTGG
+111
Val = Val
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
 
4423
PDE
I46089353  
GCCATGTGGGATGGGGAGAAATGGA G → A GCAGGTCCAGATGTGTGTGTTCTGC
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
72
7
1
0.056
160
74
6
0
0.037
120
49
10
1
0.100
100
45
5
0
0.050
10
3
1
1
0.300
Set-II
Exon: Coding
4424
PDE
 46089491514434
CTCATTATCTTCTGGTTCCTGTGTG T → C GGTCTGCGCCATCGTCCCATTCCGC
+145
Val → Ala
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
10
5
0
0
0.000
Set-II
 
4425
PDE
 46090391  
AAGGGACTCCGCAGGGCAGGGGCTG C → T AGGCCCAGGCTTTTCCAGTGCTTCT
+ 
 
n=
C/C=
C/T=
T/T=
T=
158
79
0
0
0.000
158
79
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
10
4
1
0
0.100
Set-II
 
4426
PDE
I46090585  
TCGACCCTGTGAGTTTCCCATGGAG G → A GTGCGGGGGCTCCACAGCTGAGTCC
+ 
 
n=
G/G=
G/A=
A/A=
A=
158
75
4
0
0.025
158
78
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4427
PDE
IA46090773  
GGTGGTGGGCACTCCTGATTCCCCC G → A TCCTATTCTCTCGCCTTCTAGAACC
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
47
29
4
0.231
160
45
29
6
0.256
120
33
22
5
0.267
100
21
25
4
0.330
12
3
3
0
0.250
Set-II
Exon: Coding
4428
PDE
 46090836734654
CCAGCGCTGGCTTTCTCTCCCGCCT G → A TTTTTCTGGTGGTTCACAAAGTGAG
+218
Leu = Leu
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
 
4429
PDE
 46091560  
GCTCCAGGCTGCTAAACCCTGACCC T → G CTGCGGGGCTGCCTGCCGGGCTTCA
+ 
 
n=
T/T=
T/G=
G/G=
G=
160
79
1
0
0.006
158
79
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4430
PDE
 46091747  
CGGCACGGTGAGGCCCTCCCCTTGC C → G CCAACACCCAGCCCCTTCGCTTACC
+ 
 
n=
C/C=
C/G=
G/G=
G=
160
79
1
0
0.006
158
79
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4431
PDE
I46093265  
CTGTCCCCATTCCTAACCCACTGCT C → T CTTCCTCCCTGGACCAGACACAAGG
+ 
 
n=
C/C=
C/T=
T/T=
T=
160
69
11
0
0.069
160
69
11
0
0.069
120
51
8
1
0.083
100
42
8
0
0.080
10
5
0
0
0.000
Set-II
Exon: Coding
4432
PDE
I460934171021941
ACCTTCGGCTCCAGCTTCCTCATCA G → T TGCCTGCTTCAAGCTTATCCAGGAC
+314
Ser → Ile
n=
G/G=
G/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
10
5
0
0
0.000
Set-II
 
4433
PDE
 46093490  
AGCTGCTCAGGTCTCTCCACACTCC G → A GCTCACTATAGCCCTGCCCTGGGCA
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
79
1
0
0.006
160
69
10
1
0.075
120
60
0
0
0.000
100
49
1
0
0.010
10
5
0
0
0.000
Set-II
Exon: Coding
4434
PDE
I4609605910971017
CCCACAGCATCCTGATCAGGTTTAT C → T TCCAACCCCATGGCCCCCTCCTGGT
+339
Ile = Ile
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
Exon: Coding
4435
PDE
2 pubsI4609607911171037
TTTATCTCCAACCCCATGGCCCCCT C → T CTGGTGGGGCTTCCTGGTGGCTGGG
+346
Ser → Phe
n=
C/C=
C/T=
T/T=
T=
160
79
1
0
0.006
160
76
4
0
0.025
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4436
PDE
 46096275  
GGCCCTGGGCAGCTTGCAAGAGGCT C → T GCAGCCAAGTCCACCCACTACTGTC
+ 
 
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
4437
PDE
 4609635613031223
GTCAAACGTGCGTCCACTGTGGGGG A → G AATTGTCAACCTCATGTCAGTGGAT
+408
Glu → Gly
n=
A/A=
A/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
4438
PDE
 4609995215501470
AATTGAAGGACTCGCGCATCAAGCT G → C ATGAGTGAGATCCTGAACGGCATCA
+490
Leu = Leu
n=
G/G=
G/C=
C/C=
C=
160
76
4
0
0.025
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
4439
PDE
 4610003416321552
CTTCCTGAAGCAGGTGGAGGGCATC A → C GGCAGGGTGAGCTCCAGCTGCTGCG
+518
Arg = Arg
n=
A/A=
A/C=
C/C=
C=
160
79
1
0
0.006
160
75
5
0
0.031
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4440
PDE
I4610006316611581
AGGGTGAGCTCCAGCTGCTGCGCAC G → T GCGGCCTACCTCCACACCACAACCA
+527
Thr = Thr
n=
G/G=
G/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
 
4441
PDE
 46100374  
TTAATCAGCAACCTGACTCAGGTAA C → A CCTGGGTAGGGCTGGGGGCTCTACT
+ 
 
n=
C/C=
C/A=
A/A=
A=
160
80
0
0
0.000
152
76
0
0
0.000
112
56
0
0
0.000
98
48
1
0
0.010
10
5
0
0
0.000
Set-II
 
4442
PDE
I46100786  
CTCTAGGGCTGACTCACATCCTCCC G → A TAGGCCAGTGTGTCTCTGAAACGGA
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
71
9
0
0.056
160
80
0
0
0.000
120
60
0
0
0.000
100
49
1
0
0.010
10
5
0
0
0.000
Set-II
Exon: Coding
4443
PDE
1 pubI4610082719001820
CTGAAACGGATCCAGCAATTCCTGA G → A CCAAGAGGAACTTGACCCCCAGAGT
+607
Ser → Asn
n=
G/G=
G/A=
A/A=
A=
160
75
5
0
0.031
160
80
0
0
0.000
120
60
0
0
0.000
100
49
1
0
0.010
10
5
0
0
0.000
Set-II
 
4444
PDE
 46101191  
CATCCCTTGAGCTCCCTCCCTGACC C → G TGCCCACCTTGGTCCTCTCAGGCTA
+ 
 
n=
C/C=
C/G=
G/G=
G=
160
80
0
0
0.000
160
79
1
0
0.006
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4445
PDE
 4610126820061926
TCACCTGGGCCCAGGACCTGCCCCC C → A ACTCTGCACAGGTACCAGCTTCTCC
+642
Pro = Pro
n=
C/C=
C/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
118
59
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
4446
PDE
I4610180022332153
CTTTTCGGCAAAGCCCTGAACCCCA A → T GCGCTACCAGCAGACTCTGGAGGCC
+718
Lys → Met
n=
A/A=
A/T=
T/T=
T=
154
77
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
 
4447
PDE
 46101922  
TCCTCTTCCATCCCTAAGAGGCTAG G → C GCATAGAGCTGCCCACCTCAACCCA
+ 
 
n=
G/G=
G/C=
C/C=
C=
154
0
14
63
0.909
160
1
23
56
0.844
120
6
27
27
0.675
100
1
12
37
0.860
12
0
2
4
0.833
Set-II
 
4448
PDE
 46105281  
CAAATAACAGTGGACAGGCCGTTGT C → T TCCCTGTGCCTGTCTGACCCCATTT
+ 
 
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
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
4449
PDE
 46105318  
GTCTGACCCCATTTTTCCCACCCCC C → CC GCCTCCCTCCAGGGCATTAACCTGT
+ 
 
n=
C/C=
C/CC=
CC/CC=
CC=
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
4450
PDE
1 pub 4610538223732293
GCAGCGGGTCAGTCTGGCTCGAGCT G → C TTTACAGTGATGCCGATATTTTCTT
+765
Val → Leu
n=
G/G=
G/C=
C/C=
C=
160
75
5
0
0.031
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
Exon: Coding
4451
PDE
 4610539723882308
GGCTCGAGCTGTTTACAGTGATGCC G → A ATATTTTCTTGCTGGATGACCCACT
+770
Asp → Asn
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
 
4452
PDE
 46105545  
GGGGGCTAAGGTGAGATCTGAGGCC C → T GAAGAGAGAGCTGGTGAGAGGCTGA
+ 
 
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
 
4453
PDE
I46105801  
CCAGGGGTGTGCTGGAGGGTGGTAG G → A GGTGAGAGCCTGCTGCCTTCTCCCC
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
57
3
0
0.025
98
46
3
0
0.031
12
6
0
0
0.000
Set-II
Exon: Coding
4454
PDE
 4610584525062426
TCTCCCCAGACGCGAGTGCTGGTGA C → T GCACGGCATTAGCTTCCTGCCCCAG
+809
Thr → Met
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
4455
PDE
I46107599  
AGTCTTTCTTGTTGCCCTTTCAATC C → T CCCTCATTTTATTTTCATGCTTGTC
+ 
 
n=
C/C=
C/T=
T/T=
T=
160
65
14
1
0.100
160
29
40
11
0.388
120
20
36
4
0.367
100
20
24
6
0.360
10
5
0
0
0.000
Set-II
Exon: Coding
4456
PDE
 4610778227402660
ATTGAAGACACACTCAGCAACCACA C → T GGATCTGACAGACAATGATCCAGTC
+887
Thr → Met
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
10
5
0
0
0.000
Set-II
 
4457
PDE
I46107865  
AGTTCCTGAGAGCTCCCAGCCCTCC C → T GGAGGCTGTATCAGGCCTCCCCAGG
+ 
 
n=
C/C=
C/T=
T/T=
T=
160
65
14
1
0.100
160
29
40
11
0.388
120
20
36
4
0.367
100
20
23
7
0.370
10
5
0
0
0.000
Set-II
 
4458
PDE
 46107889  
CCGGAGGCTGTATCAGGCCTCCCCA G → A GCCCTGCCAGATGGGGTGCAGGTTT
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
22
28
30
0.550
160
10
41
29
0.619
120
5
25
30
0.708
100
6
27
17
0.610
10
0
1
4
0.900
Set-II
Exon: Coding
4459
PDE
 4610799427982718
GCCTGACCAGCTGCCTCCACAGACA G → A CTGAGTGCCCTGTCCTCAGATGGGG
+906
Gln = Gln
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
79
1
0
0.006
118
59
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
4460
PDE
 4610801828222742
AGCTGAGTGCCCTGTCCTCAGATGG G → T GAGGGACAGGGTCGGCCTGTACCCC
+914
Gly = Gly
n=
G/G=
G/T=
T/T=
T=
160
80
0
0
0.000
160
79
1
0
0.006
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4461
PDE
1 pub 4610803428382758
CTCAGATGGGGAGGGACAGGGTCGG C → T CTGTACCCCGGAGGCACCTGGGTCC
+920
Pro → Ser
n=
C/C=
C/T=
T/T=
T=
160
63
16
1
0.113
160
80
0
0
0.000
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4462
PDE
1 pub 4610804428482768
GAGGGACAGGGTCGGCCTGTACCCC G → A GAGGCACCTGGGTCCATCAGAGAAG
+923
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
160
79
1
0
0.006
160
78
2
0
0.013
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4463
PDE
I4610842231193039
AGAACAACACTTCCCTGAGGCTGGG C → T GTCTATGCTGCTTTAGGAATTCTGC
+1013
Gly = Gly
n=
C/C=
C/T=
T/T=
T=
160
53
26
1
0.175
158
65
14
0
0.089
120
44
13
3
0.158
98
39
10
0
0.102
12
5
1
0
0.083
Set-II
Exon: Coding
4464
PDE
I4610843431313051
CCCTGAGGCTGGGCGTCTATGCTGC T → C TTAGGAATTCTGCAAGGTGAGCTTG
+1017
Ala = Ala
n=
T/T=
T/C=
C/C=
C=
160
80
0
0
0.000
158
79
0
0
0.000
120
60
0
0
0.000
98
48
1
0
0.010
12
6
0
0
0.000
Set-II
 
4465
PDE
 46108521  
CTCTGGGCTGCCAGGCCCCCCAAAC C → T GTGCCCTTGCATCCAAGCCTCCCTA
+ 
 
n=
C/C=
C/T=
T/T=
T=
160
69
11
0
0.069
158
69
9
1
0.070
120
59
1
0
0.008
98
42
7
0
0.071
12
5
1
0
0.083
Set-II
 
4466
PDE
 46108596  
CTGATTCTGCCCCTTTGTGCCCGCT C → T ACTAGTCCAGGTGAGCCAGCGCCCT
+ 
 
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
98
49
0
0
0.000
12
6
0
0
0.000
Set-II
 
4467
PDE
I46108975  
TGTGGGGTGGGCGTGATTCCAGTGT G → A GGCGTGGTGTTATTGGGGCGGGGCA
+ 
 
n=
G/G=
G/A=
A/A=
A=
160
71
9
0
0.056
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
4907
PDE
 4611022135763496
TGCCAGTGTCATCCGGGCCTACAAC C → T GCAGCCGGGATTTTGAGATCATCAG
+1166
Arg → Cys
n=
C/C=
C/T=
T/T=
T=
160
79
1
0
0.006
160
80
0
0
0.000
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4468
PDE
 46110387  
TGTTCAGGGTCCTTGTCCCTCCTTT C → T CCCTAAGCAGAAAACTGGCCCTGCC
+ 
 
n=
C/C=
C/T=
T/T=
T=
160
63
16
1
0.113
160
67
13
0
0.081
120
44
13
3
0.158
100
41
9
0
0.090
12
5
1
0
0.083
Set-II
 
4469
PDE
 46110449  
CCATTTCCTCCTCATCTGATCCCCC A → G TAGGTGGCTGAGCATCGGAGTGGAG
+ 
 
n=
A/A=
A/G=
G/G=
G=
160
80
0
0
0.000
160
80
0
0
0.000
120
56
4
0
0.033
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4470
PDE
I4611051637223642
TGGTGCTCTTTGCTGCACTATTTGC C → T GTCATCGGGAGGAGCAGCCTGAACC
+1214
Ala = Ala
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
 
4471
PDE
 46112096  
ACATGATCCAGGAGTCTGAACTCCT C → T CCAAAGCCATTACGGTGGGGAGGGG
+ 
 
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
4908
PDE
1 pub 4611601839363856
CCGCCCTCCCGAAGGTTGGCCCCCA C → G GTGGGGAGGTGGAGTTCCGGAATTA
+1286
Arg → Gly
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
4909
PDE
4 pubsIA4611605239703890
GTGGAGTTCCGGAATTATTCTGTGC G → A CTACCGGCCGGGCCTAGACCTGGTG
+1297
Arg → His
n=
G/G=
G/A=
A/A=
A=
160
79
1
0
0.006
160
76
4
0
0.025
120
60
0
0
0.000
100
47
3
0
0.030
12
6
0
0
0.000
Set-II
Exon: Coding
4910
PDE
1 pubI4611610440223942
TGAGAGACCTGAGTCTGCATGTGCA C → T GGTGGCGAGAAGGTACGCGTGGGGT
+1314
His = His
n=
C/C=
C/T=
T/T=
T=
160
42
32
6
0.275
160
44
31
5
0.256
120
30
27
3
0.275
100
29
16
5
0.260
12
4
2
0
0.167
Set-II
 
4911
PDE
 46116125  
TGCACGGTGGCGAGAAGGTACGCGT G → T GGGTAGGCGGGCCTGCGTGTGTGTT
+ 
 
n=
G/G=
G/T=
T/T=
T=
160
80
0
0
0.000
160
78
2
0
0.013
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4472
PDE
I4611636240884008
GCAAGTCTTCCATGACCCTTTGCCT G → A TTCCGCATCCTGGAGGCGGCAAAGG
+1336
Leu = Leu
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
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
4473
PDE
1 pubI4611639641224042
CCTGGAGGCGGCAAAGGGTGAAATC C → T GCATTGATGGCCTCAATGTGGCAGA
+1348
Arg → Cys
n=
C/C=
C/T=
T/T=
T=
160
70
8
2
0.075
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
4474
PDE
1 pubI4611644841744094
ATCGGCCTCCATGACCTGCGCTCTC A → G GCTGACCATCATCCCGCAGGTAGGA
+1365
Gln → Arg
n=
A/A=
A/G=
G/G=
G=
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
 
4475
PDE
 46117059  
AGCTGCCTCCCTCTGAGGCCACGTT G → C TATCCCCAGGACCCCATCCTGTTCT
+ 
 
n=
G/G=
G/C=
C/C=
C=
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
4476
PDE
1 pubI4611709642214141
CCCCATCCTGTTCTCGGGGACCCTG C → A GCATGAACCTGGACCCCTTCGGCAG
+1381
Arg → Ser
n=
C/C=
C/A=
A/A=
A=
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
4477
PDE
IA4612348545894509
TCCTGGACAAAGGAGTAGTAGCTGA A → G TTTGATTCTCCAGCCAACCTCATTG
+1503
Glu = Glu
n=
A/A=
A/G=
G/G=
G=
160
80
0
0
0.000
160
78
2
0
0.013
120
60
0
0
0.000
100
50
0
0
0.000
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.