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. 2018 May 25;8:8096. doi: 10.1038/s41598-018-25903-w

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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The rs118005095 missense variant is a naturally occurring human SNP that alters the HTT amino acid sequence. (A) rs118005095 results in mutation of the HTT 553 glycine residue to glutamic acid. (B) rs118005095 occurs exclusively in populations of East Asian ancestry. (C) The rs118005095 variant is one of four SNPs defining a gene-spanning HTT haplotype in the East Asian population.