EP400 Chromosome 12

E1A binding protein p400
4 variants 4 Health Risk

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What This Gene Does
Predicted to enable chromatin binding activity. Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex; Swr1 complex; and nucleosome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Myb/SANT domain containing|SNF2 related family|Tip60/Nua4 histone acetyltransferase complex subunits|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000183495
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS143981004 Health Risk Conflicting classifications of pathogenicity
RS144245663 Health Risk Conflicting classifications of pathogenicity
RS541534183 Health Risk Conflicting classifications of pathogenicity
RS771703326 Health Risk Conflicting classifications of pathogenicity
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