Variant: rs121912865 

    present in Gene: COL2A1;LOC105369752
    present in Chromosome: 12
    Position on Chromosome: 47982886
    Alleles of this Variant: G/A

rs121912865 in COL2A1;LOC105369752 gene and Namaqualand hip dysplasia PMID 1985108 1991 Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.

PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 1975693 1990 Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

PMID 8507190 1993 Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.