Gene >> GPLD1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230036 |
| Start |
24449880:24449880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149093201
|
| CDS Mutation |
c.1355C>T |
| AA Mutation |
p.Ser452Leu(p.S452L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230036 |
| Start |
24429109:24429109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370617124
|
| CDS Mutation |
c.2446G>A |
| AA Mutation |
p.Val816Ile(p.V816I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |