Gene >> SLC18A2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298472 |
| Start |
117254436:117254436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.639T>A |
| AA Mutation |
p.Asp213Glu(p.D213E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000298472 |
| Start |
117267683:117267684(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1139dupA |
| AA Mutation |
p.Asn380LysfsTer81(p.N380Kfs*81) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |