Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
358
..
358
|
C/G |
rs117175127
|
+ |
5'UTR |
|
|
443
..
443
|
T/C |
rs78491375
|
+ |
CDS |
Nonsynonymous[Ile6Thr] |
|
1810
..
1810
|
G/A |
rs115492186
|
+ |
CDS |
Nonsynonymous[Ala462Thr] |
|
1940
^
1941
|
-/A |
rs36019073
|
+ |
CDS |
|
|
2047
..
2047
|
A/G |
rs7182971
|
+ |
CDS |
Nonsynonymous[Lys541Glu] |
|
2846
..
2846
|
C/T |
rs11633796
|
+ |
CDS |
Nonsynonymous[Thr807Ile] |
|
2994
..
2994
|
G/A |
rs35165676
|
+ |
CDS |
Synonymous[Thr856Thr] |
|
3122
..
3122
|
G/A |
rs75413920
|
+ |
CDS |
AA-STOP[Trp899*] |
| Microsatellite (Short Tandem Repeat, STR) |
| No data available |
| Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) |
| No data available |
|
Repeat
|
| Type |
Start |
End |
Strand |
| L2c |
1144 |
1339 |
- |
| MER33 |
1783 |
2060 |
+ |
|