Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
279
..
279
|
A/G |
rs11550259
|
+ |
CDS |
Nonsynonymous[Ile30Val] |
|
302
..
302
|
T/C |
rs11550264
|
+ |
CDS |
Synonymous[His37His] |
|
317
..
317
|
G/T |
rs76191712
|
- |
CDS |
Nonsynonymous[Leu42Phe] |
|
384
..
384
|
C/T |
rs11550267
|
+ |
CDS |
Nonsynonymous[Leu65Phe] |
|
545
..
545
|
T/C |
rs111726475
|
- |
CDS |
Synonymous[Asp118Asp] |
|
638
..
638
|
C/A |
rs111690866
|
- |
CDS |
Synonymous[Thr149Thr] |
|
687
..
687
|
A/T |
rs111847873
|
- |
CDS |
Nonsynonymous[Thr166Ser] |
|
687
..
687
|
A/T |
rs2808002
|
- |
CDS |
Nonsynonymous[Thr166Ser] |
|
703
..
703
|
C/A |
rs11550263
|
+ |
CDS |
Nonsynonymous[Pro171His] |
|
705
..
705
|
T/C |
rs137853194
|
+ |
CDS |
Nonsynonymous[Ser172Pro] |
|
744
..
744
|
G/A |
rs3734487
|
- |
CDS |
Nonsynonymous[Ala185Thr] |
|
755
..
755
|
G/T |
rs111747273
|
- |
CDS |
Synonymous[Ser188Ser] |
|
755
..
755
|
G/T |
rs62391678
|
- |
CDS |
Synonymous[Ser188Ser] |
|
793
..
793
|
G/C |
rs1054331
|
+ |
CDS |
Nonsynonymous[Cys201Ser] |
|
793
..
793
|
G/C |
rs79612419
|
- |
CDS |
Nonsynonymous[Cys201Ser] |
|
800
..
800
|
C/T |
rs1054332
|
+ |
CDS |
Synonymous[Asp203Asp] |
|
874
..
874
|
T/C |
rs137853195
|
+ |
CDS |
Nonsynonymous[Leu228Pro] |
|
934
..
934
|
C/T |
rs2808001
|
- |
CDS |
Nonsynonymous[Ala248Val] |
|
984
..
984
|
T/C |
rs137853196
|
+ |
CDS |
Nonsynonymous[Phe265Leu] |
|
1022
..
1022
|
C/T |
rs1133329
|
+ |
CDS |
Synonymous[Gly277Gly] |
|
1439
..
1439
|
C/T |
rs17145779
|
+ |
CDS |
Synonymous[Asn416Asn] |
|
1640
..
1640
|
T/G |
rs111970943
|
- |
3'UTR |
|
|
1680
..
1680
|
C/A |
rs116504008
|
- |
3'UTR |
|
|
1681
..
1681
|
T/- |
rs67130760
|
+ |
3'UTR |
|
|
1681
..
1681
|
T/C |
rs114366210
|
- |
3'UTR |
|
|
1689
..
1689
|
C/T |
rs112387250
|
- |
3'UTR |
|
|
1690
..
1690
|
C/T |
rs75275960
|
- |
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 |
|