Gene >> BCAT2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316273 |
| Start |
48797317:48797317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139881168
|
| CDS Mutation |
c.712G>A |
| AA Mutation |
p.Val238Met(p.V238M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316273 |
| Start |
48800055:48800055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.457G>A |
| AA Mutation |
p.Glu153Lys(p.E153K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |