Gene >> CPT1A
| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265641 |
| Start |
68760226:68760226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139057953
|
| CDS Mutation |
c.2141C>T |
| AA Mutation |
p.Pro714Leu(p.P714L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265641 |
| Start |
68781776:68781776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769751060
|
| CDS Mutation |
c.1347C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |