Gene >> MMEL1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378412 |
| Start |
2604257:2604257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.841A>G |
| AA Mutation |
p.Met281Val(p.M281V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378412 |
| Start |
2592905:2592905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1929C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |