Gene >> SLC4A3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219636789:219636789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200405778
|
| CDS Mutation |
c.2450G>A |
| AA Mutation |
p.Arg817His(p.R817H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219636748:219636748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754210504
|
| CDS Mutation |
c.2409C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |