Variant: rs398123392 

    present in Gene: CYP21A2;NEU1
    present in Chromosome: 6
    Position on Chromosome: 31861259
    Alleles of this Variant: T/C;G

rs398123392 in CYP21A2;NEU1 gene and Type I Mucolipidosis PMID 16712870 2006 First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.

PMID 10767332 2000 Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.