Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
5
..
5
|
C/T |
rs199992963
|
- |
5'UTR |
|
21
..
21
|
C/T |
rs200753327
|
- |
5'UTR |
|
34
..
34
|
G/C |
rs200443634
|
- |
CDS |
Nonsynonymous[Lys2Asn] |
70
..
70
|
C/T |
rs141622611
|
- |
CDS |
Synonymous[Tyr14Tyr] |
75
..
75
|
A/G |
rs147972150
|
- |
CDS |
Nonsynonymous[Tyr16Cys] |
82
..
82
|
C/T |
rs143614672
|
- |
CDS |
Synonymous[Tyr18Tyr] |
100
..
100
|
C/T |
rs41549115
|
+ |
CDS |
Synonymous[Tyr24Tyr] |
166
..
166
|
C/T |
rs141391238
|
- |
CDS |
Synonymous[Thr46Thr] |
175
..
175
|
A/T |
rs147826890
|
- |
CDS |
Synonymous[Thr49Thr] |
184
..
184
|
G/A |
rs202156896
|
- |
CDS |
Synonymous[Leu52Leu] |
231
^
232
|
-/C |
rs66931858
|
- |
CDS |
|
244
..
244
|
C/T |
rs200559616
|
- |
CDS |
Synonymous[Tyr72Tyr] |
322
..
322
|
G/C |
rs145947678
|
- |
CDS |
Nonsynonymous[Glu98Asp] |
325
..
325
|
C/T |
rs200953364
|
- |
CDS |
Synonymous[Gly99Gly] |
330
..
330
|
A/C |
rs201123342
|
- |
CDS |
Nonsynonymous[Lys101Thr] |
336
..
336
|
C/T |
rs142462393
|
- |
CDS |
Nonsynonymous[Pro103Leu] |
363
..
363
|
G/A |
rs121913020
|
+ |
CDS |
Nonsynonymous[Arg112His] |
391
..
391
|
C/G |
rs1799791
|
+ |
CDS |
Nonsynonymous[Ile121Met] |
395
..
395
|
C/T |
rs1799792
|
+ |
CDS |
Nonsynonymous[His123Tyr] |
427
..
427
|
C/T |
rs112910027
|
- |
CDS |
Synonymous[Tyr133Tyr] |
473
..
473
|
C/T |
rs137910235
|
- |
CDS |
Nonsynonymous[Arg149Cys] |
474
..
474
|
G/A |
rs150708456
|
- |
CDS |
Nonsynonymous[Arg149His] |
481
..
481
|
C/T |
rs34021577
|
- |
CDS |
Synonymous[Ala151Ala] |
485
..
485
|
G/A |
rs200895828
|
- |
CDS |
Nonsynonymous[Val153Met] |
493
..
493
|
C/T |
rs141816180
|
- |
CDS |
Synonymous[Phe155Phe] |
696
..
696
|
C/A |
rs199863965
|
- |
CDS |
Nonsynonymous[Thr223Lys] |
728
..
728
|
A/G |
rs1799793
|
+ |
CDS |
Nonsynonymous[Asn234Asp] |
782
..
782
|
C/T |
rs146022050
|
- |
CDS |
Synonymous[Leu252Leu] |
926
..
926
|
C/T |
rs186220206
|
- |
CDS |
Nonsynonymous[Arg300Cys] |
927
..
927
|
G/A |
rs200043231
|
- |
CDS |
Nonsynonymous[Arg300His] |
1024
..
1024
|
C/T |
rs142184249
|
- |
CDS |
Synonymous[Tyr332Tyr] |
1060
..
1060
|
C/T |
rs142702501
|
- |
CDS |
Synonymous[Asp344Asp] |
1061
..
1061
|
G/A |
rs143710107
|
- |
CDS |
Nonsynonymous[Asp345Asn] |
1072
..
1072
|
G/A |
rs148469762
|
- |
CDS |
Synonymous[Pro348Pro] |
1087
..
1087
|
C/T |
rs145729219
|
- |
CDS |
Synonymous[Pro353Pro] |
1111
..
1111
|
C/T |
rs200588470
|
- |
CDS |
Synonymous[Asp361Asp] |
1117
..
1117
|
G/A |
rs147850061
|
- |
CDS |
Synonymous[Ser363Ser] |
1133
..
1133
|
G/A |
rs141457460
|
- |
CDS |
Nonsynonymous[Val369Ile] |
1137
..
1137
|
T/C |
rs41559922
|
+ |
CDS |
Nonsynonymous[Phe370Ser] |
1143
..
1143
|
G/A |
rs146632315
|
- |
CDS |
Nonsynonymous[Arg372His] |
1148
..
1148
|
C/T |
rs199643821
|
- |
CDS |
AA-STOP[Gln374*] |
1175
..
1175
|
C/G |
rs121913016
|
+ |
CDS |
Nonsynonymous[Leu383Val] |
1246
..
1246
|
G/A |
rs139370246
|
- |
CDS |
Synonymous[Thr406Thr] |
1248
..
1248
|
T/C |
rs121913025
|
+ |
CDS |
Nonsynonymous[Leu407Pro] |
1254
..
1254
|
G/A |
rs150865508
|
- |
CDS |
Nonsynonymous[Arg409Gln] |
1283
..
1283
|
C/T |
rs199738290
|
- |
CDS |
Nonsynonymous[Arg419Cys] |
1354
..
1354
|
T/C |
rs200450814
|
- |
CDS |
Synonymous[Tyr442Tyr] |
1378
..
1378
|
C/A |
rs199551160
|
- |
CDS |
Synonymous[Ser450Ser] |
1400
..
1400
|
G/A |
rs142568756
|
- |
CDS |
Nonsynonymous[Val458Met] |
1415
..
1415
|
A/C |
rs121913019
|
+ |
CDS |
Nonsynonymous[Ser463Arg] |
1426
..
1426
|
C/T |
rs147605089
|
- |
CDS |
Synonymous[Tyr466Tyr] |
1435
..
1435
|
C/T |
rs144456449
|
- |
CDS |
Synonymous[Ser469Ser] |
1439
..
1439
|
G/A |
rs199778239
|
- |
CDS |
Nonsynonymous[Val471Met] |
1498
..
1498
|
T/C |
rs141944141
|
- |
CDS |
Synonymous[Phe490Phe] |
1499
..
1499
|
A/T |
rs74792417
|
- |
CDS |
Nonsynonymous[Ile491Phe] |
1519
..
1519
|
C/T |
rs116544270
|
- |
CDS |
Synonymous[Ala497Ala] |
1520
..
1520
|
G/A |
rs201165309
|
- |
CDS |
Nonsynonymous[Glu498Lys] |
1531
..
1531
|
C/T |
rs3916876
|
+ |
CDS |
Synonymous[Val501Val] |
1568
..
1568
|
C/T |
rs190678702
|
- |
CDS |
Nonsynonymous[Arg514Cys] |
1569
..
1569
|
G/A |
rs147224585
|
- |
CDS |
Nonsynonymous[Arg514His] |
1570
..
1570
|
C/T |
rs143680124
|
- |
CDS |
Synonymous[Arg514Arg] |
1583
..
1583
|
C/T |
rs138038607
|
- |
CDS |
Synonymous[Leu519Leu] |
1588
..
1588
|
A/C |
rs150346978
|
- |
CDS |
Synonymous[Ser520Ser] |
1596
..
1596
|
G/A |
rs140522180
|
- |
CDS |
Nonsynonymous[Arg523Gln] |
1636
..
1636
|
C/T |
rs148319713
|
- |
CDS |
Synonymous[Tyr536Tyr] |
1640
..
1640
|
C/T |
rs121913024
|
+ |
CDS |
Nonsynonymous[Arg538Trp] |
1659
..
1659
|
G/T |
rs200147400
|
- |
CDS |
Nonsynonymous[Gly544Val] |
1660
..
1660
|
C/T |
rs16979773
|
+ |
CDS |
Synonymous[Gly544Gly] |
1669
..
1669
|
C/T |
rs146538967
|
- |
CDS |
Synonymous[Tyr547Tyr] |
1670
..
1670
|
G/A |
rs139002770
|
- |
CDS |
Nonsynonymous[Val548Ile] |
1681
..
1681
|
G/C |
rs200665173
|
- |
CDS |
Nonsynonymous[Gln551His] |
1685
..
1685
|
C/T/G |
rs144511865
|
- |
CDS |
|
1698
..
1698
|
C/T |
rs34517175
|
- |
CDS |
Nonsynonymous[Ala557Val] |
1699
..
1699
|
G/A |
rs145835916
|
- |
CDS |
Synonymous[Ala557Ala] |
1734
..
1734
|
G/T |
rs149818919
|
- |
CDS |
Nonsynonymous[Arg569Leu] |
1766
..
1766
|
C/T |
rs121913021
|
+ |
CDS |
Nonsynonymous[Arg580Cys] |
1786
..
1786
|
G/C |
rs139110854
|
- |
CDS |
Synonymous[Val586Val] |
1809
..
1809
|
C/T |
rs200438494
|
- |
CDS |
Nonsynonymous[Thr594Met] |
1822
..
1822
|
C/T |
rs113157435
|
- |
CDS |
Synonymous[Leu598Leu] |
1835
..
1835
|
G/A |
rs121913023
|
+ |
CDS |
Nonsynonymous[Asp603Asn] |
1841
..
1841
|
C/T |
rs41556519
|
+ |
CDS |
Nonsynonymous[Arg605Trp] |
1850
..
1850
|
C/T |
rs144277365
|
- |
CDS |
Nonsynonymous[Arg608Cys] |
1876
^
1877
|
-/C |
rs67735199
|
- |
CDS |
|
1877
..
1877
|
C/T |
rs201392911
|
- |
CDS |
Nonsynonymous[Arg617Cys] |
1908
..
1908
|
A/G |
rs140296400
|
- |
CDS |
Nonsynonymous[Asn627Ser] |
1921
..
1921
|
C/T |
rs147128863
|
- |
CDS |
Synonymous[Thr631Thr] |
1922
..
1922
|
G/A |
rs141808167
|
- |
CDS |
Nonsynonymous[Val632Met] |
1927
..
1927
|
T/C |
rs1052555
|
+ |
CDS |
Synonymous[Asp633Asp] |
1931
..
1931
|
G/C |
rs121913022
|
+ |
CDS |
Nonsynonymous[Gly635Arg] |
1944
..
1944
|
C/G |
rs144564120
|
- |
CDS |
Nonsynonymous[Ala639Gly] |
1958
..
1958
|
C/T |
rs121913026
|
+ |
CDS |
Nonsynonymous[Arg644Trp] |
1959
..
1959
|
G/A |
rs138569838
|
- |
CDS |
Nonsynonymous[Arg644Gln] |
1967
..
1967
|
G/C |
rs121913018
|
+ |
CDS |
Nonsynonymous[Ala647Pro] |
1970
..
1970
|
C/T |
rs121913017
|
+ |
CDS |
AA-STOP[Gln648*] |
1989
..
1989
|
A/G |
rs201828535
|
- |
CDS |
Nonsynonymous[Asp654Gly] |
2002
..
2002
|
G/A |
rs145067933
|
- |
CDS |
Synonymous[Leu658Leu] |
2009
..
2009
|
C/A |
rs199922063
|
- |
CDS |
Nonsynonymous[Leu661Ile] |
2025
..
2025
|
T/C |
rs201370106
|
- |
CDS |
Nonsynonymous[Leu666Pro] |
2041
..
2041
|
G/A |
rs200756227
|
- |
CDS |
Synonymous[Thr671Thr] |
2044
..
2044
|
G/C |
rs201249108
|
- |
CDS |
Synonymous[Leu672Leu] |
2045
..
2045
|
C/A |
rs13181
|
- |
CDS |
Nonsynonymous[Gln673Lys] |
2054
..
2054
|
G/C |
rs200022901
|
- |
CDS |
Nonsynonymous[Glu676Gln] |
2084
..
2084
|
C/T |
rs199702504
|
- |
3'UTR |
|
2102
..
2102
|
G/A |
rs200605760
|
- |
3'UTR |
|
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 |
|