Variant: rs11568520 

    present in Gene: MIR3936HG;SLC22A5
    present in Chromosome: 5
    Position on Chromosome: 132370023
    Alleles of this Variant: C/G

rs11568520 in MIR3936HG;SLC22A5 gene and Renal carnitine transport defect PMID 16931768 2006 Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

PMID 20074989 2010 Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

PMID 23520115 2013 Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.

PMID 20574985 2010 Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

PMID 25132046 2014 Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.