Gene >> BOP1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569669 |
| Start |
144263598:144263598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1304G>C |
| AA Mutation |
p.Gly435Ala(p.G435A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569669 |
| Start |
144263734:144263734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1249C>T |
| AA Mutation |
p.Arg417Trp(p.R417W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |