CCDC180 Chromosome 9
Coiled-coil domain containing 180
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What This Gene Does
The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000197816
Associated Conditions (2)
Mycotic Aneurysm
Intracranial
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS183800704 | Health Risk | Conflicting classifications of pathogenicity | Mycotic Aneurysm, Intracranial, Mycotic Aneurysm |