Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
271
..
271
|
T/C |
rs112922378
|
+ |
CDS |
Nonsynonymous[Val34Ala] |
|
278
..
278
|
T/C |
rs17762440
|
+ |
CDS |
Synonymous[Asp36Asp] |
|
815
..
815
|
C/T |
rs112427744
|
+ |
CDS |
Synonymous[Pro215Pro] |
|
852
..
852
|
A/G |
rs117540301
|
+ |
CDS |
Nonsynonymous[Ile228Val] |
|
1280
..
1280
|
C/G |
rs61754411
|
+ |
CDS |
Nonsynonymous[Asn370Lys] |
|
1497
..
1497
|
G/A |
rs71459181
|
+ |
CDS |
Nonsynonymous[Val443Ile] |
|
1614
..
1614
|
G/T |
rs78433620
|
+ |
CDS |
AA-STOP[Glu482*] |
|
1742
..
1742
|
G/A |
rs74073225
|
+ |
CDS |
Synonymous[Val524Val] |
|
1796
..
1796
|
T/C |
rs1050646
|
+ |
CDS |
Synonymous[Gly542Gly] |
|
1853
..
1853
|
C/T |
rs111913342
|
+ |
CDS |
Synonymous[Tyr561Tyr] |
|
2225
..
2225
|
T/C |
rs71581909
|
+ |
CDS |
Synonymous[Asn685Asn] |
|
2258
..
2258
|
C/A |
rs6488782
|
+ |
CDS |
Synonymous[Gly696Gly] |
|
2270
..
2270
|
C/T |
rs80309166
|
+ |
CDS |
Synonymous[Asn700Asn] |
|
2426
..
2426
|
T/C |
rs36020879
|
+ |
CDS |
Synonymous[Phe752Phe] |
|
2428
..
2428
|
A/G |
rs80173106
|
+ |
CDS |
Nonsynonymous[Glu753Gly] |
|
2576
..
2576
|
T/C |
rs61741744
|
+ |
CDS |
Synonymous[Ser802Ser] |
|
2892
..
2892
|
G/T |
rs11056560
|
+ |
CDS |
Nonsynonymous[Gly908Cys] |
|
3011
..
3011
|
G/A |
rs61754412
|
+ |
CDS |
Synonymous[Leu947Leu] |
|
3206
..
3206
|
G/A |
rs3748299
|
+ |
CDS |
Synonymous[Gly1012Gly] |
|
3431
..
3431
|
C/T |
rs77872564
|
+ |
CDS |
Synonymous[Asp1087Asp] |
|
3581
..
3581
|
T/A |
rs4356288
|
+ |
CDS |
Nonsynonymous[Ser1137Arg] |
|
3633
..
3633
|
C/G |
rs61757814
|
+ |
CDS |
Nonsynonymous[His1155Asp] |
|
3651
..
3651
|
T/A |
rs3190975
|
+ |
CDS |
Nonsynonymous[Phe1161Ile] |
|
3892
..
3892
|
C/G |
rs113024827
|
+ |
3'UTR |
|
|
4192
..
4192
|
G/A |
rs80301530
|
+ |
3'UTR |
|
|
4262
..
4262
|
C/G |
rs73305557
|
+ |
3'UTR |
|
|
4545
..
4545
|
G/T |
rs73305558
|
+ |
3'UTR |
|
|
4673
..
4673
|
C/G |
rs1802754
|
+ |
3'UTR |
|
|
4706
..
4706
|
A/G |
rs7306091
|
+ |
3'UTR |
|
|
4746
..
4746
|
T/G |
rs74476689
|
+ |
3'UTR |
|
|
4748
..
4748
|
A/G |
rs117346438
|
+ |
3'UTR |
|
|
4835
..
4835
|
T/C |
rs73305559
|
+ |
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 |
|