Variant: rs1057516910 

    present in Gene: SLC17A5
    present in Chromosome: 6
    Position on Chromosome: 73615410
    Alleles of this Variant: C/T

rs1057516910 in SLC17A5 gene and Sialic Acid Storage Disease, Finnish Type (disorder) PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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