Gene >> SOX17
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297316 |
| Start |
54458256:54458256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.118G>A |
| AA Mutation |
p.Gly40Arg(p.G40R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297316 |
| Start |
54459571:54459571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.821T>G |
| AA Mutation |
p.Leu274Arg(p.L274R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |