Gene >> CSAD
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000444623 |
| Start |
53171333:53171333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs544766547
|
| CDS Mutation |
c.560C>T |
| AA Mutation |
p.Ser187Leu(p.S187L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000444623 |
| Start |
53158529:53158529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1464G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |