SOBP Chromosome 6
Sine oculis binding protein homolog
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What This Gene Does
The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Zinc fingers MYM-type
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000112320
Associated Conditions (3)
Intellectual disability
anterior maxillary protrusion
and strabismus
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368271940 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, anterior maxillary protrusion, and strabismus |
| RS759344534 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760532040 | Health Risk | Conflicting classifications of pathogenicity | — |