Gene >> BCO2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357685 |
| Start |
112193596:112193596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764094222
|
| CDS Mutation |
c.416G>A |
| AA Mutation |
p.Arg139Gln(p.R139Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357685 |
| Start |
112193980:112193980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.619G>T |
| AA Mutation |
p.Glu207Ter(p.E207*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |