Gene >> GPLD1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230036 |
| Start |
24466707:24466707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.794C>A |
| AA Mutation |
p.Thr265Lys(p.T265K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230036 |
| Start |
24429075:24429075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758804691
|
| CDS Mutation |
c.2480G>A |
| AA Mutation |
p.Arg827Gln(p.R827Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |