{{Rsnum
|rsid=11568513
|Gene=SLC22A5
|Chromosome=5
|position=132392606
|Orientation=plus
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SLC22A5
}}{{PharmGKB
|RSID=rs11568513
|Name_s=SLC22A5: V481I
|Gene_s=SLC22A5
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19940846
|Annotation=Reduced TEA and l-carnitine uptake in transfected cells
|Drugs=l-carnitine
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA165111574
}}{{ClinVar
|ALT=A,T
|CAF=0.9982; 0.001837; .
|CHROM=5
|CLNACC=RCV000022384.1
|CLNALLE=2
|CLNDBN=Renal carnitine transport defect
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK84551:C0342788:212140:158:21764004
|CLNHGVS=NC_000005.9:g.131728298G>T
|COMMON=1
|Disease=Renal carnitine transport defect
|FwdALT=A,T
|FwdREF=G
|GENEINFO=SLC22A5:6584
|GENE_ID=6584
|GENE_NAME=SLC22A5
|REF=G
|RSPOS=131728298
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;TPA;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050178000000040016110100
|WGT=0
|dbSNPBuildID=127
|rsid=11568513
}}{{PMID Auto
|PMID=16931768
|Title=Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
}}