Variant: rs281875208 

    present in Gene: SLC46A1
    present in Chromosome: 17
    Position on Chromosome: 28404693
    Alleles of this Variant: G/T

rs281875208 in SLC46A1 gene and Folate Malabsorption, Hereditary PMID 17129779 2006 Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.

PMID 20805364 2010 Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.

PMID 17446347 2007 The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.

PMID 18559978 2008 A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.

PMID 20686069 2010 Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.

PMID 21333572 2011 In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC).