Gene >> EMP1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256951 |
| Start |
13213498:13213498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148486500
|
| CDS Mutation |
c.98C>T |
| AA Mutation |
p.Thr33Met(p.T33M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256951 |
| Start |
13214608:13214608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35705378
|
| CDS Mutation |
c.391G>A |
| AA Mutation |
p.Gly131Ser(p.G131S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |