DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Summary

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

Known Variants275 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250904911:118,966,521C/Tregulatory region variantbenign
rs250985111:118,966,780A/Cdownstream gene variant—
rs88604775711:118,967,224A/G—uncertain significance
rs775911:118,967,291A/Gupstream gene variantbenign
rs97035401611:118,967,318T/C—uncertain significance
rs98202849311:118,967,322C/T—uncertain significance
rs88604775811:118,967,329C/A—uncertain significance
rs88604775911:118,967,339T/C—uncertain significance
rs7465753911:118,967,467A/G—uncertain significance
rs855111:118,967,524C/Tupstream gene variantbenign
rs20058852911:118,967,711G/A—likely benign
rs77213326911:118,967,714A/G—conflicting classifications of pathogenicity
rs213489709111:118,967,716C/T—uncertain significance
rs127215685611:118,967,725G/A—uncertain significance
rs89661204211:118,967,727C/T—uncertain significance
rs14175051511:118,967,728G/A—uncertain significance
rs77991158611:118,967,731C/T—uncertain significance
rs74675960311:118,967,732G/A—likely benign
rs15053255411:118,967,734G/A—uncertain significance
rs249749820711:118,967,735C/A—uncertain significance
rs194640641011:118,967,738A/T—likely pathogenic
rs74782532211:118,967,742C/T—uncertain significance
rs18791912011:118,967,743G/A—uncertain significance
rs74707344711:118,967,747G/A—likely benign
rs213489727311:118,967,755T/G—uncertain significance
rs64378811:118,967,758T/Cmissense variantbenign
rs249749843611:118,967,771G/T—likely benign
rs213489734911:118,967,773T/G—uncertain significance
rs136411651911:118,967,787T/C—likely benign
rs249749899911:118,967,834C/T—likely benign
rs20130109611:118,967,836C/T—likely benign
rs77582505011:118,967,837G/A—likely benign
rs76108282111:118,967,842C/T—likely benign
rs194641071511:118,967,843C/T—likely benign
rs194641097011:118,967,847C/T—uncertain significance
rs213489784911:118,967,855C/T—likely benign
rs101684494911:118,967,859A/C—uncertain significance
rs213489788911:118,967,871A/G—uncertain significance
rs76880581711:118,967,872A/G—likely benign
rs77672060911:118,967,874G/A—pathogenic
rs76191133111:118,967,879G/A—likely benign
rs97256540911:118,967,880T/A—pathogenic
rs75954221811:118,967,890G/Amissense variantpathogenic
rs121099909211:118,967,896G/C—likely pathogenic
rs144235884611:118,967,912T/A—likely benign
rs98007728211:118,967,914G/C—uncertain significance
rs213489823411:118,967,916A/G—likely pathogenic
rs194641356311:118,967,954A/C—likely benign
rs147593908011:118,967,962C/T—uncertain significance
rs249749995611:118,967,963A/C—likely benign
rs249749999911:118,967,969A/G—likely benign
rs130194001611:118,967,976T/C—conflicting classifications of pathogenicity
rs159222537411:118,967,977G/C—conflicting classifications of pathogenicity
rs144060526011:118,967,980C/T—uncertain significance
rs77753094411:118,967,987C/T—likely benign
rs55584179711:118,967,989G/C—uncertain significance
rs37699673411:118,967,995G/A—uncertain significance
rs155520719611:118,968,006A/G—uncertain significance
rs213489860811:118,968,013G/A—likely benign
rs135725509511:118,968,015G/C—likely benign
rs159222559611:118,968,168T/A—uncertain significance
rs249750112611:118,968,169G/A—uncertain significance
rs249750114311:118,968,173C/T—likely pathogenic
rs194641863811:118,968,175T/G—uncertain significance
rs194641895111:118,968,186G/A—likely benign
rs78049725611:118,968,190C/T—uncertain significance
rs75552772011:118,968,203G/C—uncertain significance
rs194641979511:118,968,228G/C—uncertain significance
rs194641999911:118,968,235T/C—uncertain significance
rs143218619611:118,968,246T/C—likely benign
rs213489949211:118,968,249C/T—likely benign
rs20165654011:118,968,265C/T—conflicting classifications of pathogenicity
rs19157346511:118,968,266G/A—likely benign
rs53134671711:118,968,269G/A—likely benign
rs76415464811:118,968,271G/T—uncertain significance
rs54946546211:118,968,276T/C—likely benign
rs14520699011:118,968,279C/T—likely benign
rs37204282011:118,968,558C/T—likely benign
rs53922003511:118,968,559G/A—uncertain significance
rs77132203711:118,968,574C/T—uncertain significance
rs76841638111:118,968,580C/T—pathogenic
rs77663299511:118,968,581G/A—uncertain significance
rs249750401611:118,968,594G/A—likely benign
rs159222612011:118,968,603G/A—likely benign
rs37632220011:118,968,614G/C—uncertain significance
rs194642650211:118,968,623G/A—uncertain significance
rs249750425111:118,968,624G/T—uncertain significance
rs249750428111:118,968,629T/G—uncertain significance
rs75101259911:118,968,632A/G—uncertain significance
rs78051696011:118,968,654T/C—likely benign
rs75662554711:118,968,660G/A—likely benign
rs194642734311:118,968,672G/A—likely benign
rs38790724511:118,968,691A/Cmissense variantpathogenic
rs74587204411:118,968,692C/T—conflicting classifications of pathogenicity
rs56981335011:118,968,693G/A—likely benign
rs78094414811:118,968,709G/T—uncertain significance
rs213490163411:118,968,732C/T—likely benign
rs76965979411:118,968,738C/T—likely benign
rs140312357311:118,968,740C/T—likely pathogenic
rs77298802911:118,968,743G/A—conflicting classifications of pathogenicity

Showing 100 of 275 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.