Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
82
..
82
|
G/A |
rs112324026
|
- |
5'UTR |
|
|
246
..
246
|
G/A |
rs111761533
|
- |
CDS |
Synonymous[Thr14Thr] |
|
282
..
282
|
T/C |
rs35923393
|
+ |
CDS |
Synonymous[Asn26Asn] |
|
474
..
474
|
A/G |
rs114862098
|
- |
CDS |
Synonymous[Gly90Gly] |
|
543
..
543
|
C/G |
rs76308107
|
- |
CDS |
Synonymous[Ser113Ser] |
|
797
..
797
|
T/C |
rs4972450
|
- |
CDS |
Nonsynonymous[Leu198Pro] |
|
854
..
854
|
C/T |
rs11551322
|
+ |
CDS |
Nonsynonymous[Pro217Leu] |
|
1161
..
1161
|
T/G |
rs112447307
|
- |
CDS |
Synonymous[Pro319Pro] |
|
1354
..
1354
|
C/T |
rs71417494
|
- |
CDS |
Nonsynonymous[Pro384Ser] |
|
1357
..
1357
|
C/T |
rs71417493
|
- |
CDS |
Nonsynonymous[Pro385Ser] |
|
1371
..
1371
|
C/T |
rs41270199
|
- |
CDS |
Synonymous[Asn389Asn] |
|
1490
^
1491
|
-/T |
rs34236584
|
- |
CDS |
|
|
1503
..
1503
|
A/G |
rs76731102
|
- |
CDS |
Synonymous[Pro433Pro] |
|
1520
..
1520
|
G/A |
rs12052997
|
- |
CDS |
Nonsynonymous[Arg439Lys] |
|
1621
..
1621
|
A/G |
rs113179543
|
- |
CDS |
Nonsynonymous[Thr473Ala] |
|
1653
..
1653
|
C/T |
rs116757787
|
- |
CDS |
Synonymous[Asn483Asn] |
|
1722
..
1722
|
G/A |
rs77338811
|
- |
3'UTR |
|
|
1754
..
1754
|
C/G |
rs2163236
|
- |
3'UTR |
|
|
1890
..
1890
|
G/A |
rs112078896
|
- |
3'UTR |
|
|
1893
^
1894
|
-/TAT |
rs74971001
|
- |
3'UTR |
|
|
2008
..
2008
|
A/C |
rs16862713
|
- |
3'UTR |
|
|
2052
..
2052
|
G/A |
rs10439297
|
- |
3'UTR |
|
|
2454
..
2454
|
G/C |
rs10184172
|
- |
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
|
| Type |
Start |
End |
Strand |
| U7 |
2455 |
2517 |
+ |
|