Gene >> JAK1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64844834:64844834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2171G>A |
| AA Mutation |
p.Arg724His(p.R724H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64867172:64867172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.684C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |