rs35691438
rs35691438 is a common single-nucleotide variant located roughly 2 kb upstream of CP on chromosome 3, the gene encoding ceruloplasmin, the major copper-carrying protein in blood plasma and a protein expressed predominantly in liver. It is a non-coding, gene-proximal variant identified in a genome-wide association study of blood metal levels, where it reached genome-wide significance for serum copper concentration, consistent with a regulatory effect on CP expression rather than a change to the ceruloplasmin protein itself. In this dataset it is used with SELENBP1 rs2769264 to inform genetic tendency toward lower, typical, or higher circulating copper.
Traits rs35691438 reads
Gene
Reference databases
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