AMN

amnion associated transmembrane protein

Summary

The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]

Known Variants449 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7687838314:103,388,754C/T—likely benign
rs121149714:103,388,780A/T—benign
rs11301603514:103,388,795T/C—likely benign
rs5979343114:103,388,939C/G—benign
rs5768794814:103,388,952T/C—benign
rs229582814:103,388,999T/C—benign
rs229582914:103,389,003G/C—benign
rs88943637214:103,389,032G/C—uncertain significance
rs76852223314:103,389,046C/T—likely benign
rs146903389314:103,389,049G/T—likely benign
rs189108332114:103,389,059C/T—pathogenic
rs144396829214:103,389,068G/T—uncertain significance
rs38683417214:103,389,069G/T—pathogenic
rs36943484414:103,389,075C/T—likely benign
rs189108404914:103,389,076G/A—likely benign
rs76147205314:103,389,077G/A—likely benign
rs103997826614:103,389,078G/A—likely benign
rs76516476914:103,389,079A/G—likely benign
rs122428303514:103,389,083C/T—likely benign
rs254268202414:103,389,084A/G—likely benign
rs254268203114:103,389,085C/T—likely benign
rs254268204014:103,389,086C/T—likely benign
rs119022514:103,389,214C/T—benign
rs53306323414:103,389,354T/C—likely benign
rs76792264714:103,390,028C/T—likely benign
rs254268487214:103,390,033T/C—likely benign
rs142502338214:103,390,039C/G—likely benign
rs254268489914:103,390,042C/T—likely benign
rs135884268414:103,390,044C/T—likely benign
rs76105106214:103,390,046A/T—likely pathogenic
rs103945431414:103,390,047G/A—likely pathogenic
rs75333988714:103,390,049A/C—likely benign
rs254268493014:103,390,050C/T—likely benign
rs97957143514:103,390,060C/T—uncertain significance
rs14532839814:103,390,061G/T—likely benign
rs20212279214:103,390,066C/T—uncertain significance
rs15080242814:103,390,067C/T—likely benign
rs74699725714:103,390,079C/T—likely benign
rs55440149314:103,390,085C/T—likely benign
rs77259985714:103,390,097C/T—likely benign
rs77349441814:103,390,100C/T—likely benign
rs148513994014:103,390,109C/T—likely benign
rs19983558014:103,390,112G/C—uncertain significance
rs20064810814:103,390,114G/A—uncertain significance
rs11947805814:103,390,126C/Tmissense variantpathogenic
rs75800529014:103,390,127C/G—likely benign
rs254268523314:103,390,130G/A—likely benign
rs76370532214:103,390,133C/T—likely benign
rs13810606714:103,390,134G/A—uncertain significance
rs104871505714:103,390,139C/T—likely benign
rs37381555714:103,390,144C/T—uncertain significance
rs75511841214:103,390,145C/T—likely benign
rs77247531714:103,390,153T/C—uncertain significance
rs77126204214:103,390,157G/A—likely benign
rs75998745514:103,390,160G/A—likely benign
rs254268542914:103,390,174G/A—likely benign
rs77794068114:103,390,178C/T—likely benign
rs11377635014:103,390,179G/A—likely benign
rs75401812714:103,390,181C/T—likely benign
rs117756725714:103,390,185G/A—likely benign
rs75376493114:103,390,252G/A—likely benign
rs254268578814:103,390,256C/T—likely benign
rs75842351714:103,390,259C/A—likely benign
rs36787987514:103,390,261T/C—benign
rs189112873814:103,390,265C/T—likely benign
rs75754069414:103,390,266C/T—conflicting classifications of pathogenicity
rs74628991514:103,390,269C/T—uncertain significance
rs6173115814:103,390,274G/A—likely benign
rs254268584514:103,390,277G/A—likely benign
rs254268584814:103,390,279C/G—pathogenic
rs19962902714:103,390,284C/T—likely benign
rs138391388214:103,390,286G/A—likely benign
rs77386727514:103,390,289G/C—likely benign
rs77181987714:103,390,301C/T—likely benign
rs143078863914:103,390,304C/T—likely benign
rs77299697214:103,390,305G/A—likely benign
rs37171393714:103,390,306T/C—uncertain significance
rs37577464014:103,390,315T/A—pathogenic
rs254268600414:103,390,317G/A—likely pathogenic
rs189113097914:103,390,324C/T—likely benign
rs76505635214:103,390,325G/A—likely benign
rs36898845014:103,390,327G/A—likely benign
rs75726889114:103,390,328C/A—likely benign
rs121803570114:103,390,329T/C—likely benign
rs78145965114:103,390,330G/T—likely benign
rs189113143414:103,390,333A/C—likely benign
rs119022614:103,390,383C/T—benign
rs7408298214:103,390,473G/T—likely benign
rs254269354514:103,394,743T/C—likely benign
rs147136922514:103,394,746G/T—likely benign
rs20200496914:103,394,747C/T—likely benign
rs118383156914:103,394,748C/G—likely benign
rs76195634514:103,394,749C/T—likely benign
rs11585151714:103,394,753T/C—likely benign
rs38683417014:103,394,761A/G—pathogenic
rs38683416914:103,394,762G/C—pathogenic
rs254269362514:103,394,768G/A—likely benign
rs56879705714:103,394,774G/A—likely benign
rs136410773214:103,394,786C/T—likely benign
rs119567318414:103,394,790C/T—likely benign

Showing 100 of 449 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.