Variant: rs61752138 

    present in Gene: PEX5
    present in Chromosome: 12
    Position on Chromosome: 7209700
    Alleles of this Variant: T/G

rs61752138 in PEX5 gene and PEROXISOME BIOGENESIS DISORDER 2B PMID 7719337 1995 Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.

PMID 10462504 1999 Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.