Gene >> PSMD1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308696 |
| Start |
231153628:231153628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2180A>C |
| AA Mutation |
p.Lys727Thr(p.K727T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308696 |
| Start |
231066942:231066942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.341A>G |
| AA Mutation |
p.Glu114Gly(p.E114G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |