rs760536633

This variant is located in the BTN2A1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About BTN2A1

This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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