Gene >> PPP2R1A
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322088 |
| Start |
52225762:52225762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757889759
|
| CDS Mutation |
c.1707G>T |
| AA Mutation |
p.Gln569His(p.Q569H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322088 |
| Start |
52206043:52206043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.250G>C |
| AA Mutation |
p.Glu84Gln(p.E84Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |