Gene >> ASPA
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263080 |
| Start |
3481706:3481706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.340G>C |
| AA Mutation |
p.Asp114His(p.D114H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263080 |
| Start |
3494441:3494441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.726C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |