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Article

Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.

Human molecular genetics - 1 Nov 2014

Visser Mijke, Palstra Robert-Jan, Kayser Manfred

Abstract excerpt

Single nucleotide polymorphisms (SNPs) found to be statistically significant when associated with human diseases, and other phenotypes are most often located in non-coding regions of the genome. One example is rs10765819 located in the first intron of the BNC2 gene previously associated with (saturation of) human skin color. Here, we demonstrate that a nearby intergenic SNP (rs12350739) in high linkage...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Intergenic

Share to Enhancer Elements, Genetic

Share to Epidermis

Share to Gene Expression Regulation

Share to Genetic Loci

Share to Melanocytes

Share to Skin Pigmentation

Share to Transcription, Genetic

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Identifiers

PMID: 24916375
DOI: 10.1093/hmg/ddu289

Genes

BNC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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