rs147634987

This variant is located in the BTN2A2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About BTN2A2

Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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