rs17822931
rs17822931 is a missense variant in ABCC11 (538G>A) causing a glycine-to-arginine substitution at codon 180 (Gly180Arg) in exon 4 of this ABC-transporter protein. The Arg180 protein is degraded via the proteasome rather than trafficking normally to intracellular granules, a loss-of-function effect that reduces secretion of lipid/cerumen and apocrine-gland precursors. Homozygous AA individuals have dry, flaky earwax and reduced axillary body odor, while carriers of the G allele have wet earwax and typical apocrine (underarm) odor.
Traits rs17822931 reads
Gene
Reference databases
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