Gene >> MMP13
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260302 |
| Start |
102954231:102954231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.562G>C |
| AA Mutation |
p.Ala188Pro(p.A188P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000260302 |
| Start |
102955493:102955493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767829684
|
| CDS Mutation |
c.121C>T |
| AA Mutation |
p.Arg41Cys(p.R41C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |