Gene >> SLC19A1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311124 |
| Start |
45531740:45531740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750614412
|
| CDS Mutation |
c.598G>A |
| AA Mutation |
p.Ala200Thr(p.A200T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311124 |
| Start |
45530881:45530881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771496700
|
| CDS Mutation |
c.1040C>T |
| AA Mutation |
p.Ala347Val(p.A347V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |