Gene >> HSD17B4
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256216 |
| Start |
119529952:119529952(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772944749
|
| CDS Mutation |
c.1826C>T |
| AA Mutation |
p.Ser609Phe(p.S609F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256216 |
| Start |
119489246:119489246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.677G>A |
| AA Mutation |
p.Cys226Tyr(p.C226Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |