Gene >> ADAM12
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126118144:126118144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181811173
|
| CDS Mutation |
c.506C>T |
| AA Mutation |
p.Ala169Val(p.A169V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126098415:126098415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1005+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |