ABCB3 p.Leu272Pro

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PMID: 24675550 [PubMed] Forni D et al: "An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection."
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288 Hap II carries the derived allele of rs3788524, which is an outlier in the YRI/AS FST distribution (Supplementary Figure S6); in AS and CEU this variant is in strong LD with L272P (rs2075939), which also defines HapII.
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ABCB3 p.Leu272Pro 24675550:288:174
status: NEW
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407 One nonsynonymous polymorphism (L272P) in NCF4, encoding a cytosolic regulatory component of the NADPH oxidase complex, was also identified as a possible balancing selection target in human populations.
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ABCB3 p.Leu272Pro 24675550:407:32
status: NEW
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