Gene >> ACAA1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333167 |
| Start |
38126581:38126581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115896366
|
| CDS Mutation |
c.746G>A |
| AA Mutation |
p.Arg249His(p.R249H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333167 |
| Start |
38136608:38136608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs11552535
|
| CDS Mutation |
c.249G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |