SLC26A7 Chromosome 8
Solute carrier family 26 member 7
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What This Gene Does
This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
8q21.3
Ensembl
ENSG00000147606
Associated Conditions (1)
Congenital hypothyroidism
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753257049 | Health Risk | Likely pathogenic | — |
| RS774517670 | Health Risk | Likely pathogenic | Congenital hypothyroidism, Congenital hypothyroidism |
| RS755550507 | Health Risk | Pathogenic | — |