Gene >> SP3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310015 |
| Start |
173956128:173956128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.384G>C |
| AA Mutation |
p.Gln128His(p.Q128H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310015 |
| Start |
173910020:173910020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2267C>G |
| AA Mutation |
p.Thr756Ser(p.T756S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |