Gene >> ELSPBP1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339841 |
| Start |
48019775:48019775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.412A>T |
| AA Mutation |
p.Asn138Tyr(p.N138Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339841 |
| Start |
48016027:48016027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.343T>G |
| AA Mutation |
p.Cys115Gly(p.C115G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |