SLMAP Chromosome 3

Sarcolemma associated protein
7 variants 7 Health Risk

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What This Gene Does
This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
STRIPAK complex
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000163681
Associated Conditions (1)
Brugada syndrome
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS150439110 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS188700768 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS199881493 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS200859030 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS752276281 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS757740736 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS777858277 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
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