Gene >> HSD3B1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369413 |
| Start |
119514472:119514472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587764853
|
| CDS Mutation |
c.949C>T |
| AA Mutation |
p.Arg317Cys(p.R317C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369413 |
| Start |
119514539:119514539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761719743
|
| CDS Mutation |
c.1016C>T |
| AA Mutation |
p.Ala339Val(p.A339V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |