Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
2
..
2
|
T/G |
rs111881730
|
- |
5'UTR |
|
|
22
..
22
|
T/C |
rs4774115
|
- |
5'UTR |
|
|
26
..
26
|
A/C |
rs4774114
|
- |
CDS |
Nonsynonymous[Met1Leu] |
|
37
..
37
|
A/C |
rs4774113
|
- |
CDS |
Synonymous[Thr4Thr] |
|
55
..
55
|
C/T |
rs113208890
|
- |
CDS |
Synonymous[Phe10Phe] |
|
73
..
73
|
G/A |
rs113892460
|
- |
CDS |
Synonymous[Ala16Ala] |
|
161
..
161
|
A/G |
rs113422537
|
- |
CDS |
Nonsynonymous[Ser46Gly] |
|
214
..
214
|
C/G |
rs34195693
|
- |
CDS |
Synonymous[Arg63Arg] |
|
249
..
249
|
G/A |
rs115523671
|
- |
CDS |
Nonsynonymous[Ser75Asn] |
|
257
..
257
|
T/C |
rs35281264
|
- |
CDS |
Nonsynonymous[Cys78Arg] |
|
274
..
274
|
C/G |
rs111910988
|
- |
CDS |
AA-STOP[Tyr83*] |
|
287
..
287
|
C/T |
rs112149789
|
- |
CDS |
Nonsynonymous[Leu88Phe] |
|
310
..
310
|
C/A |
rs11847691
|
- |
CDS |
Synonymous[Ser95Ser] |
|
364
..
364
|
A/G |
rs11851921
|
- |
CDS |
Synonymous[Ala113Ala] |
|
373
..
373
|
T/C |
rs11847603
|
- |
CDS |
Synonymous[Ala116Ala] |
|
392
..
392
|
C/G |
rs11847658
|
- |
CDS |
Nonsynonymous[Leu123Val] |
|
437
..
437
|
A/C |
rs1950943
|
- |
CDS |
Nonsynonymous[Lys138Gln] |
|
439
..
439
|
G/A |
rs75318954
|
- |
CDS |
Synonymous[Lys138Lys] |
|
449
..
449
|
G/C |
rs117615316
|
- |
CDS |
Nonsynonymous[Val142Leu] |
|
453
..
453
|
T/C |
rs78328522
|
- |
CDS |
Nonsynonymous[Ile143Thr] |
|
458
..
458
|
T/G |
rs111729691
|
- |
CDS |
Nonsynonymous[Ser145Ala] |
|
466
..
466
|
C/T |
rs75377037
|
- |
CDS |
Synonymous[Ala147Ala] |
|
532
..
532
|
G/C |
rs77047842
|
- |
CDS |
Synonymous[Ala169Ala] |
|
598
..
598
|
T/C |
rs61983197
|
- |
CDS |
Synonymous[Ala191Ala] |
|
625
..
625
|
A/G |
rs11557955
|
+ |
CDS |
Synonymous[Pro200Pro] |
|
652
..
652
|
C/T |
rs113491569
|
- |
CDS |
Synonymous[Tyr209Tyr] |
|
677
..
677
|
C/A |
rs11627594
|
- |
CDS |
Nonsynonymous[Pro218Thr] |
|
787
..
787
|
G/A |
rs117098144
|
- |
CDS |
Synonymous[Pro254Pro] |
|
944
..
944
|
G/A |
rs8009156
|
- |
CDS |
Nonsynonymous[Val307Met] |
|
1021
..
1021
|
C/T |
rs7146603
|
- |
CDS |
Synonymous[Thr332Thr] |
|
1024
..
1024
|
T/C |
rs11160859
|
- |
CDS |
Synonymous[Val333Val] |
|
1025
..
1025
|
G/A |
rs113678609
|
- |
CDS |
Nonsynonymous[Val334Met] |
|
1164
..
1164
|
G/A |
rs1045715
|
+ |
CDS |
Nonsynonymous[Arg380Gln] |
|
1172
..
1172
|
A/C/T |
rs709590
|
+ |
CDS |
|
|
1232
..
1232
|
G/T |
rs4983499
|
- |
CDS |
Nonsynonymous[Ala403Ser] |
|
1282
..
1282
|
A/G |
rs1049810
|
+ |
CDS |
Synonymous[Thr419Thr] |
|
1289
..
1289
|
A/G |
rs75426199
|
- |
CDS |
Nonsynonymous[Met422Val] |
|
1330
..
1330
|
C/A |
rs1050170
|
+ |
CDS |
Synonymous[Leu435Leu] |
|
1355
..
1355
|
C/G |
rs1063434
|
+ |
CDS |
Nonsynonymous[Gln444Glu] |
|
1363
..
1363
|
C/T |
rs79786204
|
- |
CDS |
Synonymous[Asn446Asn] |
|
1364
..
1364
|
G/A |
rs1050575
|
+ |
CDS |
Nonsynonymous[Val447Ile] |
|
1369
..
1369
|
C/T |
rs1050611
|
+ |
CDS |
Synonymous[Phe448Phe] |
|
1394
..
1394
|
C/T |
rs1050859
|
+ |
CDS |
Synonymous[Leu457Leu] |
|
1411
..
1411
|
G/A |
rs28371022
|
- |
CDS |
Synonymous[Thr462Thr] |
|
1411
..
1411
|
G/A |
rs11558031
|
- |
CDS |
Synonymous[Thr462Thr] |
|
1432
..
1432
|
T/C |
rs57885569
|
- |
CDS |
Synonymous[Ser469Ser] |
|
1432
..
1432
|
T/C |
rs17854071
|
- |
CDS |
Synonymous[Ser469Ser] |
|
1434
..
1434
|
C/T |
rs74783140
|
- |
CDS |
Nonsynonymous[Pro470Leu] |
|
1449
..
1449
|
C/G |
rs61045002
|
- |
3'UTR |
|
|
1449
..
1449
|
C/G |
rs74323548
|
- |
3'UTR |
|
|
1451
..
1451
|
C/G |
rs74485754
|
- |
3'UTR |
|
|
1456
..
1456
|
G/A |
rs12882905
|
- |
3'UTR |
|
|
1456
..
1456
|
G/A |
rs74835042
|
- |
3'UTR |
|
|
1473
..
1473
|
C/T |
rs11557942
|
- |
3'UTR |
|
|
1474
..
1474
|
A/G |
rs76392983
|
- |
3'UTR |
|
|
1491
..
1491
|
T/C |
rs112515991
|
- |
3'UTR |
|
|
1516
..
1516
|
G/C |
rs11626188
|
- |
3'UTR |
|
|
1529
..
1529
|
A/G |
rs78933770
|
- |
3'UTR |
|
|
1563
..
1563
|
G/T |
rs28485939
|
- |
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 |
|