Gene >> SLC29A3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373189 |
| Start |
71356212:71356212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780941666
|
| CDS Mutation |
c.742T>C |
| AA Mutation |
p.Tyr248His(p.Y248H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373189 |
| Start |
71362123:71362123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.943G>A |
| AA Mutation |
p.Val315Ile(p.V315I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |