Gene >> SLC5A2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330498 |
| Start |
31489192:31489192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1519G>C |
| AA Mutation |
p.Gly507Arg(p.G507R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000330498 |
| Start |
31488174:31488174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1021+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |