Gene >> PPY
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225992 |
| Start |
43941494:43941494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370042899
|
| CDS Mutation |
c.161G>A |
| AA Mutation |
p.Arg54His(p.R54H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225992 |
| Start |
43941578:43941578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.77G>A |
| AA Mutation |
p.Gly26Asp(p.G26D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |