Gene >> AGXT
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307503 |
| Start |
240875171:240875171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372482918
|
| CDS Mutation |
c.743C>T |
| AA Mutation |
p.Ala248Val(p.A248V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307503 |
| Start |
240873996:240873996(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs180177248
|
| CDS Mutation |
c.614C>T |
| AA Mutation |
p.Ser205Leu(p.S205L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |