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Gene

SLC18A3

solute carrier family 18 member A3

Summary

Cytogenetic location
10q11.23
Coordinates
Chromosome 10: 49,610,310–49,612,720 (GRCh38)
Exons
1 exon across 2.4 kb
Protein
532 amino acids
Also known as
VACHT
MANE Select transcript
ENST00000374115.5NM_003055.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Myasthenic Syndrome

    • Congenital Myasthenic Syndrome (All Types)

      Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.

How SLC18A3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where SLC18A3 sits. SLC18A3 and 14 genes near it on chromosome 10, from 49,111,515 to 50,111,514.Chromosome 1010q11.23p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.349.2 Mb49.4 Mb49.6 Mb49.8 Mb50 MbVSTM4: 49,014,236–49,115,555, reverse strandVSTM4FAM170B: 49,131,154–49,134,021, reverse strandFAM170BTMEM273: 49,153,753–49,188,585, reverse strandTMEM273C10orf71: 49,299,137–49,329,924, forward strandC10orf71DRGX: 49,364,065–49,398,484, reverse strandDRGXERCC6: 49,454,168–49,539,538, reverse strandERCC6CHAT: 49,609,095–49,667,942, forward strandCHATSLC18A3: 49,610,310–49,612,720, forward strandSLC18A3C10orf53: 49,679,638–49,710,261, forward strandC10orf53OGDHL: 49,721,386–49,762,392, reverse strandOGDHLPARG: 49,815,132–49,970,203, reverse strandPARGTIMM23B: 49,942,031–49,977,625, forward strandTIMM23BTIMM23B-AGAP6: 49,942,056–50,011,654, forward strandTIMM23B-AGAP6AGAP6: 49,982,190–50,011,654, forward strandAGAP6WASHC2A: 50,067,881–50,136,578, forward strandWASHC2ADiagram of SLC18A3: one exon on the forward strand of chromosome 10Exon 1: 3 known disease-causing sitesExon 1: 49,610,310–49,612,720, 2,411 bases15′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.4 kb of the gene's 2.4 kb; 1,599 of those bases code for the protein.

How a genome test reads SLC18A3

3

positions in SLC18A3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.4 kb of SLC18A3, introns included, not only the 2.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SLC18A3 gene: solute carrier family 18 member A3. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc18a3

Vancouver

Dante Labs. SLC18A3 gene: solute carrier family 18 member A3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc18a3

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