Variant: rs121912668 

    present in Gene: SLC5A1
    present in Chromosome: 22
    Position on Chromosome: 32043363
    Alleles of this Variant: G/A

rs121912668 in SLC5A1 gene and Congenital glucose-galactose malabsorption PMID 10036327 1999 Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

PMID 8195156 1994 Structure of the human Na+/glucose cotransporter gene SGLT1.

PMID 2008213 1991 Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.

PMID 11406349 2001 A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.