Gene >> MAPRE1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375571 |
| Start |
32846766:32846766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.746C>T |
| AA Mutation |
p.Thr249Ile(p.T249I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375571 |
| Start |
32836712:32836712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758889318
|
| CDS Mutation |
c.346G>A |
| AA Mutation |
p.Asp116Asn(p.D116N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |