rs757960404

This variant is located in the SLC26A1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

not provided; Nephrolithiasis, calcium oxalate; Inborn genetic diseases

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About SLC26A1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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