Gene >> ALDH1L2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105038123:105038123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749793908
|
| CDS Mutation |
c.2125C>T |
| AA Mutation |
p.Leu709Phe(p.L709F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105070778:105070778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.220C>T |
| AA Mutation |
p.Pro74Ser(p.P74S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |