Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
28
..
28
|
G/T |
rs3112032
|
- |
5'UTR |
|
51
..
51
|
G/C |
rs200817365
|
+ |
5'UTR |
|
111
..
111
|
C/G |
rs150799758
|
+ |
5'UTR |
|
130
..
130
|
C/T |
rs199862670
|
+ |
5'UTR |
|
180
..
180
|
A/G |
rs202038449
|
+ |
CDS |
Nonsynonymous[Ile13Met] |
193
..
193
|
A/G |
rs187210090
|
+ |
CDS |
Nonsynonymous[Ile18Val] |
253
..
253
|
A/T |
rs201161071
|
+ |
CDS |
AA-STOP[Arg38*] |
260
..
260
|
C/T |
rs192089732
|
+ |
CDS |
Nonsynonymous[Pro40Leu] |
261
..
261
|
T/C |
rs200439254
|
+ |
CDS |
Synonymous[Pro40Pro] |
267
..
267
|
A/C |
rs200168245
|
+ |
CDS |
Nonsynonymous[Arg42Ser] |
288
..
288
|
C/T |
rs138008606
|
+ |
CDS |
Synonymous[Leu49Leu] |
289
..
289
|
G/A |
rs149521986
|
+ |
CDS |
Nonsynonymous[Val50Ile] |
345
..
345
|
C/T |
rs200740791
|
+ |
CDS |
Synonymous[Cys68Cys] |
353
..
353
|
C/T |
rs199541307
|
+ |
CDS |
Nonsynonymous[Ser71Leu] |
354
..
354
|
G/A |
rs201679027
|
+ |
CDS |
Synonymous[Ser71Ser] |
377
..
377
|
A/T |
rs145965194
|
+ |
CDS |
Nonsynonymous[Lys79Ile] |
409
..
409
|
C/T |
rs200583005
|
+ |
CDS |
Nonsynonymous[Arg90Trp] |
410
..
410
|
G/A |
rs139881659
|
+ |
CDS |
Nonsynonymous[Arg90Gln] |
478
..
478
|
G/A |
rs143295373
|
+ |
CDS |
Nonsynonymous[Glu113Lys] |
479
..
479
|
A/C |
rs200762711
|
+ |
CDS |
Nonsynonymous[Glu113Ala] |
515
..
515
|
A/G |
rs200847057
|
+ |
CDS |
Nonsynonymous[Lys125Arg] |
553
..
553
|
T/C |
rs2278022
|
+ |
CDS |
Nonsynonymous[Ser138Pro] |
557
..
557
|
A/T |
rs148405522
|
+ |
CDS |
Nonsynonymous[Asn139Ile] |
565
..
565
|
A/G |
rs202163506
|
+ |
CDS |
Nonsynonymous[Ile142Val] |
578
..
578
|
A/C |
rs142951248
|
+ |
CDS |
Nonsynonymous[Asn146Thr] |
586
..
586
|
C/G |
rs151129423
|
+ |
CDS |
Nonsynonymous[Pro149Ala] |
595
..
595
|
A/G |
rs140198157
|
+ |
CDS |
Nonsynonymous[Arg152Gly] |
615
..
615
|
A/G |
rs192480306
|
+ |
CDS |
Synonymous[Leu158Leu] |
643
..
643
|
T/C |
rs144856603
|
+ |
CDS |
Nonsynonymous[Ser168Pro] |
677
..
677
|
A/T |
rs202062165
|
+ |
CDS |
Nonsynonymous[Lys179Met] |
691
..
691
|
A/C |
rs147897268
|
+ |
CDS |
Nonsynonymous[Thr184Pro] |
702
..
702
|
G/A |
rs17849653
|
+ |
CDS |
Synonymous[Arg187Arg] |
725
..
725
|
C/T |
rs147066216
|
+ |
CDS |
Nonsynonymous[Pro195Leu] |
748
..
748
|
A/G |
rs2278023
|
+ |
CDS |
Nonsynonymous[Lys203Glu] |
757
..
757
|
G/A |
rs149138478
|
+ |
CDS |
Nonsynonymous[Val206Met] |
781
..
781
|
G/A |
rs143600260
|
+ |
CDS |
Nonsynonymous[Val214Ile] |
798
..
798
|
C/T |
rs148070606
|
+ |
CDS |
Synonymous[Ala219Ala] |
799
..
799
|
G/A |
rs141724880
|
+ |
CDS |
Nonsynonymous[Asp220Asn] |
862
..
862
|
T/C |
rs200444161
|
+ |
CDS |
Synonymous[Leu241Leu] |
876
..
876
|
A/G |
rs144337812
|
+ |
CDS |
Synonymous[Ser245Ser] |
936
..
936
|
T/A |
rs16954513
|
+ |
CDS |
Synonymous[Pro265Pro] |
949
..
949
|
G/T |
rs201714859
|
+ |
CDS |
Nonsynonymous[Ala270Ser] |
958
..
958
|
A/C |
rs141595738
|
+ |
CDS |
Nonsynonymous[Ile273Leu] |
973
..
973
|
A/G |
rs201996905
|
+ |
CDS |
Nonsynonymous[Ile278Val] |
1004
..
1004
|
A/G |
rs146214604
|
+ |
CDS |
Nonsynonymous[Lys288Arg] |
1040
..
1040
|
C/T |
rs139034682
|
+ |
CDS |
Nonsynonymous[Thr300Met] |
1041
..
1041
|
G/A |
rs148782024
|
+ |
CDS |
Synonymous[Thr300Thr] |
1071
..
1071
|
C/T |
rs142330665
|
+ |
CDS |
Synonymous[Asn310Asn] |
1085
..
1085
|
T/C |
rs146825471
|
+ |
CDS |
Nonsynonymous[Leu315Pro] |
1092
..
1092
|
T/C |
rs148804535
|
+ |
CDS |
Synonymous[Tyr317Tyr] |
1116
..
1116
|
T/C |
rs34105513
|
+ |
CDS |
Synonymous[Ser325Ser] |
1217
..
1217
|
C/T |
rs147920959
|
+ |
CDS |
Nonsynonymous[Thr359Ile] |
1242
..
1242
|
T/G |
rs202159810
|
+ |
CDS |
Synonymous[Thr367Thr] |
1245
^
1246
|
-/A |
rs35499342
|
+ |
CDS |
|
1269
^
1270
|
-/T |
rs35545248
|
+ |
CDS |
|
1299
..
1299
|
G/A |
rs140089425
|
+ |
CDS |
Synonymous[Gly386Gly] |
1339
..
1339
|
A/G |
rs145397957
|
+ |
CDS |
Nonsynonymous[Thr400Ala] |
1374
..
1374
|
G/A |
rs61748770
|
+ |
CDS |
Nonsynonymous[Met411Ile] |
1378
..
1378
|
G/A |
rs151075107
|
+ |
CDS |
Nonsynonymous[Gly413Arg] |
1396
..
1396
|
G/A |
rs117078057
|
+ |
CDS |
Nonsynonymous[Val419Ile] |
1406
..
1406
|
C/T |
rs201198090
|
+ |
CDS |
Nonsynonymous[Ser422Leu] |
1477
..
1477
|
C/A |
rs140929601
|
+ |
CDS |
Nonsynonymous[Pro446Thr] |
1512
..
1512
|
T/G |
rs112443272
|
+ |
CDS |
Nonsynonymous[Ile457Met] |
1541
..
1541
|
G/A |
rs150200933
|
+ |
CDS |
Nonsynonymous[Ser467Asn] |
1542
..
1542
|
T/C |
rs145721902
|
+ |
CDS |
Synonymous[Ser467Ser] |
1550
..
1550
|
A/G |
rs200372687
|
+ |
CDS |
Nonsynonymous[Asn470Ser] |
1551
..
1551
|
T/C |
rs141081245
|
+ |
CDS |
Synonymous[Asn470Asn] |
1553
..
1553
|
G/C |
rs144895396
|
+ |
CDS |
Nonsynonymous[Ser471Thr] |
1598
..
1598
|
T/C |
rs138633197
|
+ |
CDS |
Nonsynonymous[Ile486Thr] |
1605
..
1605
|
A/G |
rs201370892
|
+ |
CDS |
Synonymous[Leu488Leu] |
1634
..
1634
|
G/C |
rs199515815
|
+ |
CDS |
Nonsynonymous[Ser498Thr] |
1647
..
1647
|
C/T |
rs2257378
|
+ |
CDS |
Synonymous[Ala502Ala] |
1692
..
1692
|
A/G |
rs145338151
|
+ |
CDS |
Synonymous[Gly517Gly] |
1693
..
1693
|
C/A |
rs200417535
|
+ |
CDS |
Nonsynonymous[Pro518Thr] |
1716
..
1716
|
C/G |
rs201616270
|
+ |
CDS |
Synonymous[Gly525Gly] |
1722
..
1722
|
C/T |
rs148017120
|
+ |
CDS |
Synonymous[Ala527Ala] |
1737
..
1737
|
C/T |
rs141616780
|
+ |
CDS |
Synonymous[Ile532Ile] |
1749
..
1749
|
C/T |
rs150501808
|
+ |
CDS |
Synonymous[Ile536Ile] |
1764
..
1764
|
G/A |
rs139470864
|
+ |
CDS |
Synonymous[Ser541Ser] |
1802
..
1802
|
T/C |
rs143273883
|
+ |
CDS |
Nonsynonymous[Leu554Pro] |
1813
..
1813
|
A/G |
rs36040615
|
+ |
CDS |
Nonsynonymous[Thr558Ala] |
1818
..
1818
|
C/T |
rs140077063
|
+ |
CDS |
Synonymous[Thr559Thr] |
1877
..
1877
|
C/A |
rs145596345
|
+ |
CDS |
Nonsynonymous[Thr579Asn] |
1890
..
1890
|
C/A |
rs74028902
|
+ |
CDS |
Synonymous[Ser583Ser] |
1904
..
1904
|
G/A |
rs199871299
|
+ |
CDS |
Nonsynonymous[Gly588Glu] |
1975
..
1975
|
A/T |
rs148736718
|
+ |
CDS |
Nonsynonymous[Ser612Cys] |
1997
..
1997
|
G/T |
rs142359892
|
+ |
CDS |
Nonsynonymous[Gly619Val] |
2058
..
2058
|
A/C |
rs184072726
|
+ |
CDS |
Nonsynonymous[Gln639His] |
2073
..
2073
|
C/T |
rs189682910
|
+ |
CDS |
Synonymous[Ser644Ser] |
2075
..
2075
|
C/T |
rs151238129
|
+ |
CDS |
Nonsynonymous[Thr645Ile] |
2092
..
2092
|
G/A |
rs140516569
|
+ |
CDS |
Nonsynonymous[Ala651Thr] |
2112
..
2112
|
G/T |
rs201400382
|
+ |
CDS |
Nonsynonymous[Gln657His] |
2140
..
2140
|
A/C |
rs140395262
|
+ |
CDS |
Nonsynonymous[Ser667Arg] |
2184
..
2184
|
C/A |
rs199884781
|
+ |
CDS |
Nonsynonymous[Asn681Lys] |
2212
..
2212
|
C/G |
rs200535451
|
+ |
CDS |
Nonsynonymous[Leu691Val] |
2224
..
2224
|
C/G |
rs199588579
|
+ |
CDS |
Nonsynonymous[Leu695Val] |
2256
..
2256
|
C/A |
rs143481793
|
+ |
CDS |
Nonsynonymous[Ser705Arg] |
2273
..
2273
|
C/T |
rs15148
|
+ |
CDS |
Nonsynonymous[Thr711Ile] |
2279
..
2279
|
C/T |
rs146769334
|
+ |
CDS |
Nonsynonymous[Ala713Val] |
2280
..
2280
|
G/A |
rs180861974
|
+ |
CDS |
Synonymous[Ala713Ala] |
2329
..
2329
|
G/A |
rs144992315
|
+ |
3'UTR |
|
2392
..
2392
|
C/G |
rs186061880
|
+ |
3'UTR |
|
2393
..
2393
|
G/T |
rs113605557
|
+ |
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 |
|