Gene >> SRD5A2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000622030 |
| Start |
31533706:31533706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.342A>T |
| AA Mutation |
p.Arg114Ser(p.R114S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000622030 |
| Start |
31531373:31531373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.545A>T |
| AA Mutation |
p.Gln182Leu(p.Q182L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |