SLC4A3 Chromosome 2
Solute carrier family 4 member 3
Upload your DNA to see your personal genotypes for variants in SLC4A3.
What This Gene Does
The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Solute carrier family 4
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000114923
Associated Conditions (2)
Inborn genetic diseases
Short QT syndrome 7
Key Variants
RS140581019
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS773948874
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2469281007
Pathogenic
Short QT syndrome 7, Short QT syndrome 7
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140581019 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773948874 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2469281007 | Health Risk | Pathogenic | Short QT syndrome 7, Short QT syndrome 7 |