Variant: rs200837270 

    present in Gene: CD207
    present in Chromosome: 2
    Position on Chromosome: 70831747
    Alleles of this Variant: A/G

rs200837270 in CD207 gene and BIRBECK GRANULE DEFICIENCY PMID 15816828 2005 A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene.

PMID 16567809 2006 Polymorphisms in human langerin affect stability and sugar binding activity.