Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

SLC22A5

solute carrier family 22 member 5

Chromosome
5
Cytoband
5q31.1
Variants (rsID)
56

SLC22A5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.1). Its official name is “solute carrier family 22 member 5”. The reference table lists 56 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

34 reference-table entries with clinical significance.

  • rs13180169Benignsingle nucleotide variantRenal carnitine transport defect
  • rs11568514Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect|See cases
  • rs139203363Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs144020613Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs200125400Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs200699819Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs201082652Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect|Abnormality of the nervous system
  • rs28383481Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs72552734Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs727504159Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect|Decreased plasma carnitine
  • rs781721860Conflicting interpretationssingle nucleotide variantRenal carnitine transport defect
  • rs121908892Likely pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs114269482Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs11568520Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs121908886Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs121908888Pathogenicsingle nucleotide variantRenal carnitine transport defect|Decreased plasma carnitine
  • rs121908889Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs121908890Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs144547521Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs151231558Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs185551386Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs202088921Pathogenicsingle nucleotide variantRenal carnitine transport defect|Axial hypotonia
  • rs267607052Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs267607054Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs377724489Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs386134212Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs60376624Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs72552725Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs72552727Pathogenicsingle nucleotide variantRenal carnitine transport defect
  • rs72552732Pathogenicsingle nucleotide variantRenal carnitine transport defect|Inborn genetic diseases|Decreased plasma carnitine
  • rs142447950Uncertain significancesingle nucleotide variantRenal carnitine transport defect
  • rs2631367Uncertain significancesingle nucleotide variantInflammatory bowel disease 5
  • rs28383480Uncertain significancesingle nucleotide variantRenal carnitine transport defect|High myopia
  • rs386134203Uncertain significancesingle nucleotide variantRenal carnitine transport defect

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.