Variant: rs28937595 

    present in Gene: SLC19A2
    present in Chromosome: 1
    Position on Chromosome: 169477447
    Alleles of this Variant: C/A;T

rs28937595 in SLC19A2 gene and Thiamine responsive megaloblastic anemia syndrome PMID 10391221 1999 Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

PMID 10874303 2000 The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

PMID 19643445 2009 Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

PMID 12435857 2002 Using transient expression of wild-type and a missense mutant THTR-1 protein, derived from a TRMA family, in different cell lines and immunodetection analysis, we determined the expression, posttranslational modification, and subcellular localization of the wild-type and G172D mutant THTR-1.

PMID 17132746 2006 Thiamine transporter mutation: an example of monogenic diabetes mellitus.

PMID 12065289 2002 Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.

PMID 17463047 2007 Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.