Gene >> CKAP2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378037 |
| Start |
52465446:52465446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1460C>G |
| AA Mutation |
p.Ala487Gly(p.A487G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378037 |
| Start |
52474978:52474978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs73186408
|
| CDS Mutation |
c.1889G>A |
| AA Mutation |
p.Arg630His(p.R630H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |