Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
90
..
90
|
C/G |
rs58657209
|
- |
5'UTR |
|
|
208
..
208
|
G/A |
rs4844415
|
- |
CDS |
Nonsynonymous[Ser15Asn] |
|
223
..
223
|
G/A |
rs2782948
|
+ |
CDS |
Nonsynonymous[Arg20Gln] |
|
346
..
346
|
G/A |
rs76008312
|
- |
CDS |
Nonsynonymous[Arg61His] |
|
356
..
356
|
C/T |
rs117987880
|
- |
CDS |
Synonymous[Thr64Thr] |
|
379
..
379
|
A/G |
rs11119014
|
- |
CDS |
Nonsynonymous[Gln72Arg] |
|
392
..
392
|
C/T |
rs12120681
|
- |
CDS |
Synonymous[Ala76Ala] |
|
407
..
407
|
C/T |
rs35598508
|
+ |
CDS |
Synonymous[Ala81Ala] |
|
443
..
443
|
C/T |
rs73082013
|
- |
CDS |
Synonymous[Thr93Thr] |
|
450
..
450
|
G/T |
rs79601528
|
- |
CDS |
Nonsynonymous[Val96Leu] |
|
780
..
780
|
A/G |
rs117227131
|
- |
CDS |
Nonsynonymous[Lys206Glu] |
|
994
..
994
|
C/- |
rs34826215
|
- |
CDS |
|
|
1006
..
1006
|
T/- |
rs35574844
|
- |
CDS |
|
|
1008
..
1008
|
G/A |
rs3748735
|
- |
CDS |
Nonsynonymous[Ala282Thr] |
|
1315
..
1315
|
G/A |
rs4844658
|
- |
CDS |
Nonsynonymous[Gly384Glu] |
|
1322
..
1322
|
A/G |
rs4844657
|
- |
CDS |
Synonymous[Leu386Leu] |
|
1391
..
1391
|
C/G |
rs1664227
|
- |
CDS |
Synonymous[Thr409Thr] |
|
1499
..
1499
|
C/T |
rs73079947
|
- |
CDS |
Synonymous[Asp445Asp] |
|
1661
..
1661
|
G/A |
rs113086092
|
- |
CDS |
Synonymous[Arg499Arg] |
|
1818
..
1818
|
T/G |
rs117460810
|
- |
CDS |
Nonsynonymous[Cys552Gly] |
|
1820
..
1820
|
C/G |
rs77126890
|
- |
CDS |
Nonsynonymous[Cys552Trp] |
|
2062
..
2062
|
C/A |
rs12029683
|
- |
CDS |
Nonsynonymous[Pro633His] |
|
2084
..
2084
|
G/A |
rs73084907
|
- |
CDS |
Synonymous[Pro640Pro] |
|
2189
..
2189
|
A/T |
rs11118983
|
- |
CDS |
Nonsynonymous[Gln675His] |
|
2622
..
2622
|
G/T |
rs76422797
|
- |
CDS |
Nonsynonymous[Ala820Ser] |
|
2623
..
2623
|
C/G |
rs17011882
|
- |
CDS |
Nonsynonymous[Ala820Gly] |
|
2719
..
2719
|
A/G |
rs41309627
|
- |
CDS |
Nonsynonymous[His852Arg] |
|
2792
..
2792
|
C/T |
rs17011880
|
- |
CDS |
Synonymous[Thr876Thr] |
|
3017
..
3017
|
G/A |
rs2274447
|
+ |
CDS |
Synonymous[Glu951Glu] |
|
3200
..
3200
|
C/T |
rs41283120
|
- |
CDS |
Synonymous[Tyr1012Tyr] |
|
3488
..
3488
|
C/T |
rs76872162
|
- |
CDS |
Synonymous[Thr1108Thr] |
|
3798
..
3798
|
A/C |
rs75857188
|
- |
CDS |
Nonsynonymous[Thr1212Pro] |
|
3845
..
3845
|
C/T |
rs35172327
|
+ |
CDS |
Synonymous[Val1227Val] |
|
4386
..
4386
|
G/C/A |
rs1472593
|
- |
CDS |
|
|
4536
..
4536
|
G/A |
rs12240051
|
- |
CDS |
Nonsynonymous[Ala1458Thr] |
|
4643
..
4643
|
G/A |
rs61744729
|
- |
CDS |
Synonymous[Thr1493Thr] |
|
4721
..
4721
|
C/T |
rs113860539
|
- |
CDS |
Synonymous[Cys1519Cys] |
|
4815
..
4815
|
G/A |
rs34457681
|
+ |
CDS |
Nonsynonymous[Val1551Met] |
|
5072
..
5072
|
T/C |
rs3736963
|
+ |
CDS |
Synonymous[Tyr1636Tyr] |
|
5315
..
5315
|
T/G |
rs56168065
|
- |
CDS |
Synonymous[Thr1717Thr] |
|
5543
..
5543
|
C/T |
rs113155197
|
- |
CDS |
Synonymous[Phe1793Phe] |
|
5851
..
5851
|
A/T |
rs75840482
|
- |
CDS |
Nonsynonymous[Tyr1896Phe] |
|
6060
..
6060
|
C/T |
rs111651146
|
- |
3'UTR |
|
|
6216
..
6216
|
C/T |
rs11539012
|
- |
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 |
|