Gene >> PLOD2
| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360060 |
| Start |
146088588:146088588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1003A>G |
| AA Mutation |
p.Lys335Glu(p.K335E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360060 |
| Start |
146072624:146072624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758719698
|
| CDS Mutation |
c.1722A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |