Gene >> UCHL1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284440 |
| Start |
41264138:41264138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.562A>T |
| AA Mutation |
p.Ser188Cys(p.S188C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284440 |
| Start |
41257697:41257697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758047620
|
| CDS Mutation |
c.134C>T |
| AA Mutation |
p.Pro45Leu(p.P45L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |