Variant: rs794729653 

    present in Gene: SLC17A5
    present in Chromosome: 6
    Position on Chromosome: 73641807
    Alleles of this Variant: T/-

rs794729653 in SLC17A5 gene and Infantile Sialic Acid Storage Disease PMID 15805149 2005 Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

PMID 10581036 1999 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

rs794729653 in SLC17A5 gene and Sialic Acid Storage Disease, Finnish Type (disorder) PMID 10581036 1999 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

PMID 15805149 2005 Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.