Variant: rs121908892

present in Gene: SLC22A5;MIR3936HG present in Chromosome: 5 Position on Chromosome: 132369975 Alleles of this Variant: G/A;T

rs121908892 in SLC22A5;MIR3936HG gene and Renal carnitine transport defect PMID 15714519 2005 Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

PMID 16652335 2006 Pharmacological rescue of carnitine transport in primary carnitine deficiency.