Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
123
..
123
|
C/T |
rs116903250
|
+ |
5'UTR |
|
|
254
..
254
|
G/A |
rs73251052
|
+ |
CDS |
Nonsynonymous[Arg8Gln] |
|
493
..
493
|
C/T |
rs13230032
|
+ |
CDS |
Nonsynonymous[Leu88Phe] |
|
651
..
651
|
G/A |
rs113842436
|
+ |
CDS |
Synonymous[Leu140Leu] |
|
877
..
877
|
G/A |
rs61734970
|
+ |
CDS |
Nonsynonymous[Gly216Arg] |
|
905
..
905
|
A/G |
rs61732569
|
+ |
CDS |
Nonsynonymous[Asn225Ser] |
|
962
..
962
|
C/T |
rs116181849
|
+ |
CDS |
Nonsynonymous[Pro244Leu] |
|
964
..
964
|
G/A |
rs61730252
|
+ |
CDS |
Nonsynonymous[Ala245Thr] |
|
1137
..
1137
|
C/T |
rs11546478
|
+ |
CDS |
Synonymous[Phe302Phe] |
|
1890
..
1890
|
T/G |
rs36170987
|
+ |
CDS |
Synonymous[Val553Val] |
|
1903
..
1903
|
C/T |
rs62644536
|
+ |
CDS |
Nonsynonymous[Arg558Trp] |
|
1908
..
1908
|
C/T |
rs11546480
|
+ |
CDS |
Synonymous[Asp559Asp] |
|
1921
..
1921
|
A/G |
rs36139924
|
+ |
CDS |
Nonsynonymous[Asn564Asp] |
|
2016
..
2016
|
G/A |
rs36173075
|
+ |
3'UTR |
|
|
2027
..
2027
|
C/G |
rs36138803
|
+ |
3'UTR |
|
|
2056
..
2056
|
C/T |
rs11546477
|
+ |
3'UTR |
|
|
2221
..
2221
|
G/A |
rs11546481
|
+ |
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 |
|