Gene >> CPA1
| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000011292 |
| Start |
130380585:130380585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.65G>T |
| AA Mutation |
p.Gly22Val(p.G22V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000011292 |
| Start |
130381112:130381112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs547564304
|
| CDS Mutation |
c.80G>C |
| AA Mutation |
p.Arg27Pro(p.R27P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |