Gene >> UGT2B28
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335568 |
| Start |
69294576:69294576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756354201
|
| CDS Mutation |
c.1357C>T |
| AA Mutation |
p.Pro453Ser(p.P453S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000335568 |
| Start |
69294556:69294556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1337C>G |
| AA Mutation |
p.Ser446Ter(p.S446*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |