Gene >> DBT
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370132 |
| Start |
100216034:100216034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.721G>A |
| AA Mutation |
p.Val241Ile(p.V241I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370132 |
| Start |
100206527:100206527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150934375
|
| CDS Mutation |
c.1127G>A |
| AA Mutation |
p.Arg376His(p.R376H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |