Gene >> ASPRV1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320256 |
| Start |
69961130:69961130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371446435
|
| CDS Mutation |
c.559G>A |
| AA Mutation |
p.Val187Ile(p.V187I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320256 |
| Start |
69961341:69961341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.348G>A |
| AA Mutation |
p.Trp116Ter(p.W116*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |