Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
27
..
27
|
C/T |
rs41408845
|
+ |
5'UTR |
|
|
294
..
294
|
G/A |
rs1143679
|
+ |
CDS |
Nonsynonymous[Arg77His] |
|
745
..
745
|
G/A |
rs41499844
|
+ |
CDS |
Synonymous[Thr227Thr] |
|
939
..
939
|
G/A |
rs61755176
|
+ |
CDS |
Nonsynonymous[Arg292His] |
|
1017
..
1017
|
T/A |
rs61755177
|
+ |
CDS |
Nonsynonymous[Phe318Tyr] |
|
1093
..
1093
|
C/A |
rs3087444
|
+ |
CDS |
Nonsynonymous[Ser343Arg] |
|
1386
..
1386
|
C/T |
rs11861251
|
+ |
CDS |
Nonsynonymous[Thr441Met] |
|
1399
..
1399
|
C/T |
rs79658154
|
+ |
CDS |
Synonymous[Asn445Asn] |
|
1530
..
1530
|
G/- |
rs34543155
|
- |
CDS |
|
|
1569
..
1569
|
G/A |
rs79206973
|
+ |
CDS |
Nonsynonymous[Arg502Gln] |
|
1843
..
1843
|
C/A |
rs77434675
|
+ |
CDS |
Synonymous[Leu593Leu] |
|
1865
..
1865
|
C/T |
rs8056264
|
+ |
CDS |
Synonymous[Leu601Leu] |
|
2008
..
2008
|
C/T |
rs1143681
|
+ |
CDS |
Synonymous[Ala648Ala] |
|
2188
..
2188
|
C/A |
rs118095734
|
+ |
CDS |
Synonymous[Thr708Thr] |
|
2545
..
2545
|
C/A |
rs3087445
|
+ |
CDS |
Synonymous[Ser827Ser] |
|
2561
..
2561
|
A/C |
rs78048000
|
+ |
CDS |
Nonsynonymous[Thr833Pro] |
|
2563
..
2563
|
G/A |
rs1143682
|
+ |
CDS |
Synonymous[Thr833Thr] |
|
2637
..
2637
|
C/T |
rs1143683
|
+ |
CDS |
Nonsynonymous[Ala858Val] |
|
2814
..
2814
|
T/G |
rs76323106
|
+ |
CDS |
Nonsynonymous[Leu917Arg] |
|
2824
..
2824
|
G/A |
rs116037476
|
+ |
CDS |
Synonymous[Pro920Pro] |
|
2917
..
2917
|
G/T |
rs61758333
|
+ |
CDS |
Nonsynonymous[Met951Ile] |
|
3063
..
3063
|
C/A |
rs41321249
|
+ |
CDS |
Nonsynonymous[Thr1000Asn] |
|
3241
..
3241
|
C/G |
rs80070764
|
+ |
CDS |
Synonymous[Thr1059Thr] |
|
3427
..
3427
|
C/T |
rs1143677
|
+ |
CDS |
Synonymous[Ala1121Ala] |
|
3500
..
3500
|
C/T |
rs1143678
|
+ |
CDS |
Nonsynonymous[Pro1146Ser] |
| 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 |
|