Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
68
..
68
|
C/T |
rs79777494
|
- |
CDS |
Nonsynonymous[Pro4Leu] |
|
79
..
79
|
G/A |
rs3219484
|
+ |
CDS |
Nonsynonymous[Val8Met] |
|
89
..
89
|
G/A |
rs75321043
|
- |
CDS |
Nonsynonymous[Gly11Asp] |
|
280
..
280
|
T/C |
rs1140507
|
+ |
CDS |
Nonsynonymous[Trp75Arg] |
|
285
..
285
|
C/A |
rs121908380
|
+ |
CDS |
AA-STOP[Tyr76*] |
|
509
..
509
|
A/G |
rs34612342
|
+ |
CDS |
Nonsynonymous[Tyr151Cys] |
|
653
..
653
|
C/T |
rs11545695
|
+ |
CDS |
Nonsynonymous[Ala199Val] |
|
694
..
694
|
C/T |
rs34126013
|
+ |
CDS |
Nonsynonymous[Arg213Trp] |
|
743
..
743
|
T/G |
rs112422930
|
- |
CDS |
Nonsynonymous[Leu229Arg] |
|
924
..
924
|
C/G |
rs11211096
|
- |
CDS |
Synonymous[Leu289Leu] |
|
987
..
987
|
G/C |
rs3219489
|
+ |
CDS |
Nonsynonymous[Gln310His] |
|
1086
..
1086
|
C/T |
rs61751011
|
- |
CDS |
Synonymous[Ser343Ser] |
|
1091
..
1091
|
C/T |
rs35352891
|
+ |
CDS |
Nonsynonymous[Ala345Val] |
|
1154
..
1154
|
A/G |
rs76641561
|
- |
CDS |
Nonsynonymous[Asn366Ser] |
|
1160
..
1160
|
G/A |
rs36053993
|
+ |
CDS |
Nonsynonymous[Gly368Asp] |
|
1186
..
1186
|
C/T |
rs121908382
|
+ |
CDS |
Nonsynonymous[Pro377Ser] |
|
1214
..
1214
|
A/G |
rs121908383
|
+ |
CDS |
Nonsynonymous[Gln386Arg] |
|
1404
..
1404
|
G/C |
rs74318065
|
- |
CDS |
Synonymous[Thr449Thr] |
|
1411
..
1411
|
G/T |
rs121908381
|
+ |
CDS |
AA-STOP[Glu452*] |
|
1432
..
1432
|
T/C |
rs114461656
|
- |
CDS |
Nonsynonymous[Ser459Pro] |
|
1481
..
1481
|
G/A |
rs3219494
|
+ |
CDS |
Nonsynonymous[Gly475Glu] |
|
1531
..
1531
|
A/- |
rs34961970
|
- |
CDS |
|
|
1558
..
1558
|
C/A |
rs3219496
|
+ |
CDS |
Nonsynonymous[Leu501Met] |
|
1574
..
1574
|
G/A |
rs3219497
|
+ |
CDS |
Nonsynonymous[Arg506Gln] |
| 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 |
|