AOC3

amine oxidase copper containing 3

Summary

This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

Known Variants60 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15079666717:41,003,400G/A—uncertain significance
rs57010759017:41,003,471G/C—uncertain significance
rs20184765017:41,003,479A/G—uncertain significance
rs76216646217:41,003,577C/T—uncertain significance
rs54140014017:41,003,592C/T—uncertain significance
rs40268017:41,003,593G/A—likely benign
rs156768875617:41,003,596T/G—uncertain significance
rs56430160017:41,003,741C/T—likely benign
rs77931779317:41,003,772G/C—uncertain significance
rs56192688617:41,003,836G/T—uncertain significance
rs63007917:41,003,968A/G—likely benign
rs13905116317:41,003,998C/T—uncertain significance
rs74684748217:41,004,024G/A—uncertain significance
rs75780182117:41,004,081C/T—uncertain significance
rs76679352817:41,004,133G/A—uncertain significance
rs78121594817:41,004,165C/T—uncertain significance
rs44838317:41,004,173C/T—likely benign
rs135124691717:41,004,232T/C—uncertain significance
rs55769889517:41,004,249G/T—uncertain significance
rs77791624317:41,004,279C/T—uncertain significance
rs75044252617:41,004,325G/A—uncertain significance
rs222959517:41,004,346G/A—likely benign
rs148251576917:41,004,393A/G—uncertain significance
rs14769320617:41,004,417C/G—likely benign
rs76625165817:41,004,451G/A—uncertain significance
rs3509730817:41,004,472T/C—benign
rs74977702717:41,004,498A/G—uncertain significance
rs75544760117:41,004,502C/T—likely benign
rs254416592717:41,004,510T/C—uncertain significance
rs36998306917:41,004,531A/G—uncertain significance
rs37373778517:41,004,558C/T—uncertain significance
rs14382696517:41,004,559G/A—uncertain significance
rs254416612517:41,004,561G/A—uncertain significance
rs3603601417:41,004,576T/A—benign
rs75353889817:41,004,676C/G—uncertain significance
rs222959617:41,004,681C/T—benign
rs36784810217:41,004,727C/T—likely benign
rs53095791517:41,004,733C/T—uncertain significance
rs14648799017:41,004,823G/A—uncertain significance
rs20061099217:41,004,868C/T—uncertain significance
rs75456633317:41,004,882G/A—uncertain significance
rs37027730317:41,004,883G/A—uncertain significance
rs205569589717:41,004,901A/T—uncertain significance
rs77367408517:41,006,488G/A—uncertain significance
rs76742621217:41,006,545A/G—uncertain significance
rs7526050117:41,006,561G/A—likely benign
rs14659694917:41,006,589C/T—benign
rs3498792717:41,006,608G/A—benign
rs19991347517:41,006,617C/T—uncertain significance
rs13832572017:41,006,666G/A—uncertain significance
rs76616383017:41,006,711C/T—uncertain significance
rs3490827217:41,006,760G/Adownstream gene variant—
rs137295151117:41,007,540C/G—uncertain significance
rs37050715817:41,007,541C/A—uncertain significance
rs205573807017:41,007,570A/G—uncertain significance
rs37317139017:41,008,372C/T—likely benign
rs18830879317:41,008,392G/A—uncertain significance
rs14452131717:41,008,452G/T—uncertain significance
rs36935607817:41,008,502C/T—uncertain significance
rs205575195017:41,008,535G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.