SLC10A2 Chromosome 13
Solute carrier family 10 member 2
Upload your DNA to see your personal genotypes for variants in SLC10A2.
What This Gene Does
This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Solute carrier family 10
Locus Type
gene with protein product
Location
13q33.1
Ensembl
ENSG00000125255
Associated Conditions (4)
SLC10A2-related disorder
Bile acid malabsorption
primary
1
Key Variants
RS112657170
Conflicting classifications of pathogenicity
SLC10A2-related disorder, SLC10A2-related disorder
Health Risk
RS1172213655
Conflicting classifications of pathogenicity
Health Risk
RS117447044
Conflicting classifications of pathogenicity
SLC10A2-related disorder, SLC10A2-related disorder
Health Risk
RS1193102070
Conflicting classifications of pathogenicity
Health Risk
RS138387807
Conflicting classifications of pathogenicity
Health Risk
RS139517943
Conflicting classifications of pathogenicity
SLC10A2-related disorder, SLC10A2-related disorder
Health Risk
RS140050923
Conflicting classifications of pathogenicity
Health Risk
RS141524545
Conflicting classifications of pathogenicity
Health Risk
RS143992162
Conflicting classifications of pathogenicity
SLC10A2-related disorder, SLC10A2-related disorder
Health Risk
RS147075283
Conflicting classifications of pathogenicity
SLC10A2-related disorder, SLC10A2-related disorder
Health Risk
RS147498129
Conflicting classifications of pathogenicity
SLC10A2-related disorder, SLC10A2-related disorder
Health Risk
RS150970825
Conflicting classifications of pathogenicity
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112657170 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS1172213655 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS117447044 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS1193102070 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138387807 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139517943 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS140050923 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141524545 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143992162 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS147075283 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS147498129 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS150970825 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190734512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199553519 | Health Risk | Conflicting classifications of pathogenicity | Bile acid malabsorption, primary, 1 |
| RS199894506 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS200682819 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS201571450 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201994393 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS370310605 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |
| RS370438426 | Health Risk | Conflicting classifications of pathogenicity | Bile acid malabsorption, primary, 1 |
| RS374581163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61966074 | Health Risk | Conflicting classifications of pathogenicity | Bile acid malabsorption, primary, 1 |
| RS71640247 | Health Risk | Conflicting classifications of pathogenicity | Bile acid malabsorption, primary, 1 |
| RS72547505 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, Bile acid malabsorption, primary |
| RS746750365 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761652195 | Health Risk | Conflicting classifications of pathogenicity | SLC10A2-related disorder, SLC10A2-related disorder |