Gene >> OCA2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354638 |
| Start |
28018537:28018537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.667G>A |
| AA Mutation |
p.Val223Met(p.V223M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354638 |
| Start |
28018506:28018506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.698C>A |
| AA Mutation |
p.Ala233Glu(p.A233E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |