Literature summary for 3.2.1.108 extracted from

Khabarova, Y.; Torniainen, S.; Savilahti, E.; Isokoski, M.; Mattila, K.; Jaervelae, I.
The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence (2010), Scand. J. Clin. Lab. Invest., 70, 354-357.

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Application

Application	Comment	Organism
medicine	analysis of sequence variants of lactase persistence/lactase non-persistence LP/LNP in subjects originating from Northern Russia. The prevalence of the -13910C/C genotype among 148 patients was 28.4%. A G to A variant residing 13914 bp upstream from the LCT gene, -13914G/A, was identified in one participant carrying the -13910C/C genotype. The -13914G/A variant in heterozygous state is associated with increased lactase activity, suggesting that the increased lactase activity is most likely to be associated with the -13914G/A variant	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)