SLC16A12 Chromosome 10
Solute carrier family 16 member 12
Upload your DNA to see your personal genotypes for variants in SLC16A12.
What This Gene Does
This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Solute carrier family 16
Locus Type
gene with protein product
Location
10q23.31
Ensembl
ENSG00000152779
Associated Conditions (2)
Juvenile cataract-microcornea-renal glucosuria syndrome
Congenital ocular coloboma
Key Variants
RS145964337
Conflicting classifications of pathogenicity
Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome
Health Risk
RS150800688
Conflicting classifications of pathogenicity
Congenital ocular coloboma, Juvenile cataract-microcornea-renal glucosuria syndrome, Congenital ocular coloboma
Health Risk
RS201390928
Conflicting classifications of pathogenicity
Health Risk
RS551632763
Conflicting classifications of pathogenicity
Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome
Health Risk
RS1564568546
Likely pathogenic
Health Risk
RS786205460
Likely pathogenic
Health Risk
RS121909386
Pathogenic
Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145964337 | Health Risk | Conflicting classifications of pathogenicity | Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome |
| RS150800688 | Health Risk | Conflicting classifications of pathogenicity | Congenital ocular coloboma, Juvenile cataract-microcornea-renal glucosuria syndrome, Congenital ocular coloboma |
| RS201390928 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS551632763 | Health Risk | Conflicting classifications of pathogenicity | Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome |
| RS1564568546 | Health Risk | Likely pathogenic | — |
| RS786205460 | Health Risk | Likely pathogenic | — |
| RS121909386 | Health Risk | Pathogenic | Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome |