Gene >> ACAT1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265838 |
| Start |
108140117:108140117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.632A>G |
| AA Mutation |
p.Gln211Arg(p.Q211R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265838 |
| Start |
108147374:108147374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1268T>G |
| AA Mutation |
p.Leu423Arg(p.L423R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |