ALFRED detailed record information
Synonyms: rs4988235 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: dbSNP rs # Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is a C/T SNP in the intron region of MCM6 gene. The -13910*T allele introduces a BsmFI restriction site.The primer sets ,pcr amplification conditions and restriction product sizes are detailed in Coelho et.al.
Studies have shown that this nucleotide change affects lactase promoter activity and thus is highly likely to cause lactase persistence. This polymorphism is associated with lactase persistence seen in European populations.
|Allele Name||Allele Symbol||Description|
|C||C||5' - atacagataagataatgtag C ccctggcctcaaaggaactc - 3'|
|T||T||5' - atacagataagataatgtag T ccctggcctcaaaggaactc - 3'|
- Coelho M, Luiselli D, Bertorelle G, Lopes AI, Seixas S, Destro-Bisol G, Rocha J. "Microsatellite variation and evolution of human lactase persistence". Hum Genet. 117:329-339. (2005) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan