SLC26A1 Chromosome 4
Solute carrier family 26 member 1
Upload your DNA to see your personal genotypes for variants in SLC26A1.
What This Gene Does
This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000145217
Associated Conditions (9)
Hypersulfaturia
Nephrolithiasis susceptibility caused by SLC26A1
Nephrolithiasis
calcium oxalate
SLC26A1-related disorder
Inborn genetic diseases
Mucopolysaccharidosis
MPS-I-H/S
Nonpapillary renal cell carcinoma
Key Variants
RS138449255
Conflicting classifications of pathogenicity
Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia
Health Risk
RS139024319
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, SLC26A1-related disorder
Health Risk
RS139142520
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1
Health Risk
RS140299648
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1
Health Risk
RS143381873
Conflicting classifications of pathogenicity
Health Risk
RS146466185
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, SLC26A1-related disorder
Health Risk
RS148386572
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, Nephrolithiasis susceptibility caused by SLC26A1
Health Risk
RS148832260
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, SLC26A1-related disorder
Health Risk
RS200069949
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia
Health Risk
RS200471470
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS201608921
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS369620087
Conflicting classifications of pathogenicity
Nephrolithiasis, calcium oxalate, Inborn genetic diseases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138449255 | Health Risk | Conflicting classifications of pathogenicity | Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia |
| RS139024319 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, SLC26A1-related disorder |
| RS139142520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1 |
| RS140299648 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1 |
| RS143381873 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146466185 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, SLC26A1-related disorder |
| RS148386572 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, Nephrolithiasis susceptibility caused by SLC26A1 |
| RS148832260 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, SLC26A1-related disorder |
| RS200069949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia |
| RS200471470 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS201608921 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS369620087 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, Inborn genetic diseases |
| RS370834972 | Health Risk | Conflicting classifications of pathogenicity | Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia |
| RS371616275 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS536555705 | Health Risk | Conflicting classifications of pathogenicity | Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia |
| RS554618177 | Health Risk | Conflicting classifications of pathogenicity | SLC26A1-related disorder, Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1 |
| RS558586992 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-I-H/S, Nephrolithiasis susceptibility caused by SLC26A1 |
| RS566030346 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS569131932 | Health Risk | Conflicting classifications of pathogenicity | Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia |
| RS748877758 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754358942 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1 |
| RS761530861 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis susceptibility caused by SLC26A1, Hypersulfaturia, Nonpapillary renal cell carcinoma |
| RS773823235 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, calcium oxalate, Inborn genetic diseases |
| RS1192140369 | Health Risk | Pathogenic | Nephrolithiasis, calcium oxalate, Hypersulfaturia |