Gene >> HSD17B6
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322165 |
| Start |
56787136:56787136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.748A>G |
| AA Mutation |
p.Met250Val(p.M250V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322165 |
| Start |
56787205:56787205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.817A>C |
| AA Mutation |
p.Thr273Pro(p.T273P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |