SLC18A3 Chromosome 10
Solute carrier family 18 member A3
Upload your DNA to see your personal genotypes for variants in SLC18A3.
What This Gene Does
This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 18
Locus Type
gene with protein product
Location
10q11.23
Ensembl
ENSG00000187714
Associated Conditions (3)
Congenital myasthenic syndrome 21
Inborn genetic diseases
SLC18A3-related disorder
Key Variants
RS1554800621
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
Health Risk
RS1838279783
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199520651
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
Health Risk
RS761894527
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
Health Risk
RS78571038
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS8187734
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 21, SLC18A3-related disorder, Congenital myasthenic syndrome 21
Health Risk
RS1057517666
Likely pathogenic
Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
Health Risk
RS1554800550
Likely pathogenic
Health Risk
RS1554800734
Likely pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554800621 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21 |
| RS1838279783 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199520651 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21 |
| RS761894527 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21 |
| RS78571038 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS8187734 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 21, SLC18A3-related disorder, Congenital myasthenic syndrome 21 |
| RS1057517666 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21 |
| RS1554800550 | Health Risk | Likely pathogenic | — |
| RS1554800734 | Health Risk | Likely pathogenic | — |