Variant: rs121918104 

    present in Gene: PSAP
    present in Chromosome: 10
    Position on Chromosome: 71825892
    Alleles of this Variant: C/G

rs121918104 in PSAP gene and Abnormality of brain morphology PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

rs121918104 in PSAP gene and Combined Saposin Deficiency PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

rs121918104 in PSAP gene and Metachromatic Leukodystrophy due to Saposin B Deficiency PMID 10196694 1999 An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

PMID 10682309 2000 A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

PMID 2019586 1991 Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

PMID 2320574 1990 Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

PMID 2302219 1990 Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.