Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
45
..
45
|
C/T |
rs144030121
|
+ |
CDS |
Synonymous[Leu15Leu] |
76
..
76
|
T/A |
rs148654072
|
+ |
CDS |
Nonsynonymous[Val25Asp] |
131
..
131
|
A/T |
rs200549501
|
+ |
CDS |
Synonymous[Thr43Thr] |
178
..
178
|
G/A |
rs200669636
|
+ |
CDS |
Nonsynonymous[Arg59Lys] |
188
..
188
|
C/T |
rs35219274
|
+ |
CDS |
Synonymous[Ala62Ala] |
195
..
195
|
C/T |
rs146264118
|
+ |
CDS |
Nonsynonymous[Leu65Phe] |
223
..
223
|
T/C |
rs78134188
|
+ |
CDS |
Nonsynonymous[Phe74Ser] |
232
..
232
|
T/C |
rs201632580
|
+ |
CDS |
Nonsynonymous[Val77Ala] |
308
..
308
|
A/G |
rs184286955
|
+ |
CDS |
Synonymous[Gln102Gln] |
313
..
313
|
G/C |
rs139530372
|
+ |
CDS |
Nonsynonymous[Ser104Thr] |
341
..
341
|
G/A |
rs144194122
|
+ |
CDS |
Synonymous[Ala113Ala] |
378
..
378
|
A/G |
rs112723764
|
+ |
CDS |
Nonsynonymous[Asn126Asp] |
392
..
392
|
C/G/T |
rs140595504
|
+ |
CDS |
|
418
..
418
|
C/T |
rs140987368
|
+ |
CDS |
Nonsynonymous[Ser139Leu] |
424
..
424
|
G/A |
rs150493524
|
+ |
CDS |
Nonsynonymous[Ser141Asn] |
476
..
476
|
T/C |
rs200450016
|
+ |
CDS |
Synonymous[Phe158Phe] |
562
..
562
|
C/T |
rs35584866
|
+ |
CDS |
Nonsynonymous[Pro187Leu] |
575
..
575
|
G/A |
rs145817156
|
+ |
CDS |
Synonymous[Thr191Thr] |
646
..
646
|
C/T |
rs148968455
|
+ |
CDS |
Nonsynonymous[Ala215Val] |
658
..
658
|
C/T |
rs147118711
|
+ |
CDS |
Nonsynonymous[Pro219Leu] |
686
..
686
|
G/A |
rs200613403
|
+ |
CDS |
Synonymous[Ser228Ser] |
701
..
701
|
T/G |
rs75755755
|
+ |
CDS |
Nonsynonymous[Asp233Glu] |
722
..
722
|
C/T |
rs73556541
|
+ |
CDS |
Synonymous[Leu240Leu] |
753
..
753
|
T/C |
rs141158396
|
+ |
CDS |
Synonymous[Leu251Leu] |
779
..
779
|
A/G |
rs626716
|
- |
CDS |
Synonymous[Leu259Leu] |
813
..
813
|
C/A |
rs1133005
|
+ |
CDS |
Nonsynonymous[Leu271Ile] |
852
..
852
|
G/A |
rs142950356
|
+ |
CDS |
Nonsynonymous[Val284Ile] |
858
..
858
|
C/A |
rs1053814
|
+ |
CDS |
Nonsynonymous[Leu286Ile] |
929
..
929
|
A/G |
rs148018572
|
+ |
CDS |
Synonymous[Leu309Leu] |
1029
..
1029
|
C/T |
rs74108122
|
+ |
CDS |
Synonymous[Leu343Leu] |
1045
..
1045
|
G/T |
rs202197617
|
+ |
CDS |
Nonsynonymous[Cys348Phe] |
1047
..
1047
|
G/A |
rs150524073
|
+ |
CDS |
Nonsynonymous[Gly349Arg] |
1070
..
1070
|
G/T |
rs187899902
|
+ |
CDS |
Synonymous[Leu356Leu] |
1073
..
1073
|
G/A |
rs138601488
|
+ |
CDS |
Synonymous[Pro357Pro] |
1133
..
1133
|
A/G |
rs200777434
|
+ |
CDS |
Synonymous[Ala377Ala] |
1401
..
1401
|
A/G |
rs61750355
|
+ |
CDS |
Nonsynonymous[Ile467Val] |
1409
..
1409
|
T/C |
rs146283423
|
+ |
CDS |
Synonymous[Phe469Phe] |
1433
..
1433
|
A/C |
rs186104273
|
+ |
CDS |
Synonymous[Leu477Leu] |
1484
..
1484
|
A/G |
rs139387961
|
+ |
CDS |
Synonymous[Val494Val] |
1503
..
1503
|
A/G |
rs200052721
|
+ |
CDS |
Nonsynonymous[Ile501Val] |
1519
..
1519
|
A/G |
rs144227305
|
+ |
CDS |
Nonsynonymous[Lys506Arg] |
1562
..
1562
|
C/T |
rs201940249
|
+ |
CDS |
Synonymous[Ala520Ala] |
1572
..
1572
|
G/A |
rs34433527
|
+ |
CDS |
Nonsynonymous[Glu524Lys] |
1575
..
1575
|
G/A |
rs632729
|
- |
CDS |
Nonsynonymous[Glu525Lys] |
1613
..
1613
|
A/C |
rs632681
|
- |
CDS |
Synonymous[Ser537Ser] |
1615
..
1615
|
T/G |
rs17854370
|
+ |
CDS |
Nonsynonymous[Leu538Arg] |
1625
..
1625
|
C/T |
rs148706100
|
+ |
CDS |
Synonymous[Ile541Ile] |
1643
..
1643
|
A/C |
rs61750356
|
+ |
CDS |
Nonsynonymous[Gln547His] |
1646
..
1646
|
A/G |
rs151265890
|
+ |
CDS |
Synonymous[Lys548Lys] |
1647
..
1647
|
G/A |
rs484770
|
- |
CDS |
Nonsynonymous[Glu549Lys] |
1659
..
1659
|
C/T |
rs4534693
|
+ |
CDS |
Synonymous[Leu553Leu] |
1698
..
1698
|
C/T |
rs701530
|
- |
CDS |
Synonymous[Leu566Leu] |
1704
..
1704
|
G/T |
rs139377419
|
+ |
CDS |
Nonsynonymous[Val568Phe] |
1723
..
1723
|
T/C |
rs200401552
|
+ |
CDS |
Nonsynonymous[Met574Thr] |
1778
..
1778
|
T/C |
rs1804739
|
+ |
CDS |
Synonymous[Asn592Asn] |
1901
..
1901
|
G/A |
rs182942075
|
+ |
CDS |
Synonymous[Thr633Thr] |
2066
..
2066
|
T/C |
rs181240597
|
+ |
CDS |
Synonymous[Tyr688Tyr] |
2078
..
2078
|
A/G |
rs145534492
|
+ |
CDS |
Synonymous[Leu692Leu] |
2096
..
2096
|
G/A |
rs147758248
|
+ |
CDS |
Synonymous[Glu698Glu] |
2102
..
2102
|
C/G/T |
rs142630426
|
+ |
CDS |
|
2174
..
2174
|
G/A |
rs182747248
|
+ |
CDS |
Synonymous[Ala724Ala] |
2177
..
2177
|
A/T |
rs2230411
|
+ |
CDS |
Nonsynonymous[Glu725Asp] |
2179
..
2179
|
C/G |
rs202187162
|
+ |
CDS |
Nonsynonymous[Ser726Cys] |
2185
..
2185
|
C/G |
rs144895554
|
+ |
CDS |
Nonsynonymous[Pro728Arg] |
2207
..
2207
|
A/G |
rs149025927
|
+ |
CDS |
Synonymous[Arg735Arg] |
2225
..
2225
|
T/C |
rs17854371
|
+ |
CDS |
Synonymous[Tyr741Tyr] |
2231
..
2231
|
A/G |
rs200558872
|
+ |
CDS |
Synonymous[Thr743Thr] |
2300
..
2300
|
C/T |
rs200125652
|
+ |
CDS |
Synonymous[Leu766Leu] |
2316
..
2316
|
T/C |
rs200162649
|
+ |
CDS |
Nonsynonymous[Ser772Pro] |
2339
..
2339
|
A/G |
rs61750357
|
+ |
CDS |
Synonymous[Val779Val] |
2408
..
2408
|
A/G |
rs143087147
|
+ |
CDS |
Synonymous[Glu802Glu] |
2499
..
2499
|
G/A |
rs148215705
|
+ |
CDS |
Nonsynonymous[Asp833Asn] |
2504
..
2504
|
T/C |
rs141775748
|
+ |
CDS |
Synonymous[Asn834Asn] |
2591
..
2591
|
G/T |
rs199998911
|
+ |
CDS |
Nonsynonymous[Gln863His] |
2648
..
2648
|
A/G |
rs145449026
|
+ |
CDS |
Synonymous[Gln882Gln] |
2678
..
2678
|
A/G |
rs201070600
|
+ |
CDS |
Nonsynonymous[Ile892Met] |
2679
..
2679
|
G/A |
rs9584741
|
+ |
CDS |
Nonsynonymous[Glu893Lys] |
2708
..
2708
|
C/T |
rs140767528
|
+ |
CDS |
Synonymous[Tyr902Tyr] |
2711
..
2711
|
A/C |
rs2296092
|
- |
CDS |
Synonymous[Ala903Ala] |
2716
..
2716
|
A/G |
rs1804740
|
+ |
CDS |
Nonsynonymous[Tyr905Cys] |
2727
..
2727
|
C/A |
rs200546717
|
+ |
CDS |
Nonsynonymous[Pro909Thr] |
2768
..
2768
|
G/A |
rs525939
|
- |
CDS |
Synonymous[Arg922Arg] |
2807
..
2807
|
C/T |
rs182104719
|
+ |
CDS |
Synonymous[Tyr935Tyr] |
2823
..
2823
|
C/T |
rs187636041
|
+ |
CDS |
Nonsynonymous[Arg941Cys] |
2827
..
2827
|
C/T |
rs11551261
|
+ |
CDS |
Nonsynonymous[Pro942Leu] |
2876
..
2876
|
G/A |
rs199650168
|
+ |
CDS |
Synonymous[Ala958Ala] |
2887
..
2887
|
C/T |
rs145372207
|
+ |
CDS |
Nonsynonymous[Thr962Ile] |
2908
..
2908
|
C/T |
rs1804741
|
+ |
CDS |
Nonsynonymous[Thr969Ile] |
2939
..
2939
|
C/T |
rs145166442
|
+ |
CDS |
Synonymous[Ile979Ile] |
2993
..
2993
|
G/A |
rs183978513
|
+ |
CDS |
Synonymous[Leu997Leu] |
3041
..
3041
|
C/T |
rs143227504
|
+ |
CDS |
Synonymous[Phe1013Phe] |
3042
..
3042
|
A/C |
rs149346936
|
+ |
CDS |
Nonsynonymous[Asn1014His] |
3080
..
3080
|
T/C |
rs200379132
|
+ |
CDS |
Synonymous[Ile1026Ile] |
3100
..
3100
|
C/G |
rs144748695
|
+ |
CDS |
Nonsynonymous[Thr1033Ser] |
3180
..
3180
|
C/T |
rs139976558
|
+ |
CDS |
Nonsynonymous[Arg1060Cys] |
3190
..
3190
|
A/G |
rs145600638
|
+ |
CDS |
Nonsynonymous[Asn1063Ser] |
3293
..
3293
|
G/A |
rs191710256
|
+ |
CDS |
Synonymous[Ala1097Ala] |
Microsatellite (Short Tandem Repeat, STR) |
No data available |
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) |
No data available |
|
Repeat
|
No data available |
|