Gene >> SAV1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324679 |
| Start |
50665571:50665571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.143C>G |
| AA Mutation |
p.Thr48Ser(p.T48S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324679 |
| Start |
50640767:50640767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762207330
|
| CDS Mutation |
c.933C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |