Gene >> EPC2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258484 |
| Start |
148761828:148761828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.713G>A |
| AA Mutation |
p.Arg238Lys(p.R238K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258484 |
| Start |
148771054:148771054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1387G>T |
| AA Mutation |
p.Asp463Tyr(p.D463Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |