SLC10A7 Chromosome 4
Solute carrier family 10 member 7
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What This Gene Does
Predicted to enable symporter activity. Involved in bone development; heparin proteoglycan biosynthetic process; and intracellular calcium ion homeostasis. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 10
Locus Type
gene with protein product
Location
4q31.22
Ensembl
ENSG00000120519
Associated Conditions (3)
Short stature
amelogenesis imperfecta
and skeletal dysplasia with scoliosis
Key Variants
RS1560782372
Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Health Risk
RS1560973467
Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Health Risk
RS1560973571
Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Health Risk
RS1560980659
Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Health Risk
RS1560980728
Pathogenic
Health Risk
RS773117913
Pathogenic
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1560782372 | Health Risk | Pathogenic | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis |
| RS1560973467 | Health Risk | Pathogenic | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis |
| RS1560973571 | Health Risk | Pathogenic | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis |
| RS1560980659 | Health Risk | Pathogenic | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis |
| RS1560980728 | Health Risk | Pathogenic | — |
| RS773117913 | Health Risk | Pathogenic | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis |