Variant: rs121434346 

    present in Gene: SLC6A19
    present in Chromosome: 5
    Position on Chromosome: 1212338
    Alleles of this Variant: G/A

rs121434346 in SLC6A19 gene and Hartnup Disease PMID 15286788 2004 Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.

PMID 17555458 2007 Persistence of the common Hartnup disease D173N allele in populations of European origin.

PMID 19185582 2009 Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

PMID 18484095 2008 Further evidence for allelic heterogeneity in Hartnup disorder.

PMID 18424768 2008 A protein complex in the brush-border membrane explains a Hartnup disorder allele.

PMID 15286787 2004 Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.