SLC36A2 Chromosome 5
Solute carrier family 36 member 2
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What This Gene Does
This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Solute carrier family 36
Locus Type
gene with protein product
Location
5q33.1
Ensembl
ENSG00000186335
Associated Conditions (3)
SLC36A2-related disorder
Iminoglycinuria
Hyperglycinuria
Key Variants
RS140682366
Conflicting classifications of pathogenicity
SLC36A2-related disorder, SLC36A2-related disorder
Health Risk
RS559821596
Conflicting classifications of pathogenicity
SLC36A2-related disorder, Iminoglycinuria, Hyperglycinuria
Health Risk
RS77010315
Conflicting classifications of pathogenicity
Hyperglycinuria, Iminoglycinuria, Hyperglycinuria
Health Risk
RS774099891
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140682366 | Health Risk | Conflicting classifications of pathogenicity | SLC36A2-related disorder, SLC36A2-related disorder |
| RS559821596 | Health Risk | Conflicting classifications of pathogenicity | SLC36A2-related disorder, Iminoglycinuria, Hyperglycinuria |
| RS77010315 | Health Risk | Conflicting classifications of pathogenicity | Hyperglycinuria, Iminoglycinuria, Hyperglycinuria |
| RS774099891 | Health Risk | Conflicting classifications of pathogenicity | — |