Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
137
..
137
|
C/T |
rs117835961
|
+ |
CDS |
Nonsynonymous[Arg27Cys] |
|
149
..
149
|
A/G |
rs1050994
|
+ |
CDS |
Nonsynonymous[Asn31Asp] |
|
401
..
401
|
T/C |
rs1050995
|
+ |
CDS |
Nonsynonymous[Phe115Leu] |
|
437
..
437
|
G/C |
rs4767022
|
+ |
CDS |
Nonsynonymous[Gly127Arg] |
|
461
..
461
|
G/T |
rs111902215
|
+ |
CDS |
Nonsynonymous[Val135Leu] |
|
542
..
542
|
G/A/C |
rs1131454
|
+ |
CDS |
|
|
783
..
783
|
G/A |
rs56006713
|
+ |
CDS |
Nonsynonymous[Arg242Gln] |
|
829
..
829
|
G/A |
rs79785883
|
+ |
CDS |
Synonymous[Thr257Thr] |
|
897
..
897
|
A/C |
rs3209727
|
+ |
CDS |
Nonsynonymous[Asn280Thr] |
|
961
..
961
|
G/A |
rs77298087
|
+ |
CDS |
Synonymous[Pro301Pro] |
|
1046
..
1046
|
C/T |
rs1804488
|
+ |
CDS |
Nonsynonymous[Pro330Ser] |
|
1105
..
1105
|
C/T |
rs34712807
|
+ |
CDS |
Synonymous[Ser349Ser] |
|
1112
..
1112
|
G/A/C/T |
rs1131476
|
+ |
CDS |
|
|
1118
..
1118
|
G/A |
rs111407879
|
+ |
CDS |
Nonsynonymous[Asp354Asn] |
|
1119
..
1119
|
A/G |
rs35919998
|
+ |
CDS |
Nonsynonymous[Asp354Gly] |
|
1140
..
1140
|
G/C |
rs1051042
|
+ |
CDS |
Nonsynonymous[Arg361Thr] |
|
1210
..
1210
|
G/A |
rs11836381
|
+ |
CDS |
Synonymous[Gln384Gln] |
|
1312
..
1312
|
C/T |
rs34354934
|
+ |
3'UTR |
|
|
1318
..
1318
|
T/G |
rs45507596
|
+ |
3'UTR |
|
|
1345
..
1345
|
G/A |
rs2660
|
+ |
3'UTR |
|
|
1397
..
1397
|
C/G |
rs111747561
|
+ |
3'UTR |
|
|
1555
^
1556
|
-/A |
rs34893035
|
+ |
3'UTR |
|
|
1566
..
1566
|
A/T |
rs112543402
|
+ |
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 |
| MIR3 |
1280 |
1423 |
- |
|