Gene >> CPB2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000181383 |
| Start |
46064686:46064686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.758C>T |
| AA Mutation |
p.Thr253Ile(p.T253I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000181383 |
| Start |
46053623:46053623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1263G>T |
| AA Mutation |
p.Arg421Ser(p.R421S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |