GNPTG

N-acetylglucosamine-1-phosphate transferase subunit gamma

Summary

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

Known Variants612 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2854171316:1,401,845C/G—benign
rs2865423916:1,401,895G/C—likely benign
rs88605165616:1,401,907C/T—uncertain significance
rs88605165716:1,401,925G/C—uncertain significance
rs54128487316:1,401,927C/A—uncertain significance
rs76522041116:1,401,939G/A—uncertain significance
rs101779700016:1,401,957C/A—uncertain significance
rs55470739616:1,401,963C/T—uncertain significance
rs214163259916:1,401,969G/A—uncertain significance
rs116165255216:1,401,971C/T—uncertain significance
rs88605165816:1,401,972G/T—conflicting classifications of pathogenicity
rs91420769916:1,401,973G/A—conflicting classifications of pathogenicity
rs86721770516:1,401,974C/T—uncertain significance
rs76376480116:1,401,975G/C—likely benign
rs57480119216:1,401,977G/C—uncertain significance
rs75691024416:1,401,978G/T—likely benign
rs54366076016:1,401,979C/G—uncertain significance
rs254818551416:1,401,981G/A—likely benign
rs124313485216:1,401,982G/T—uncertain significance
rs75422545516:1,401,983C/T—uncertain significance
rs135665382516:1,401,984G/A—likely benign
rs53223624116:1,401,985C/T—uncertain significance
rs77950550816:1,401,986G/A—uncertain significance
rs97712465116:1,401,987G/T—likely benign
rs129263676916:1,401,988C/T—conflicting classifications of pathogenicity
rs92852897416:1,401,989T/A—uncertain significance
rs120578399316:1,401,990C/G—likely benign
rs74824307516:1,401,991C/T—likely benign
rs77223980316:1,401,992T/C—uncertain significance
rs104466099216:1,401,993G/C—likely benign
rs56219108216:1,401,994T/C—likely benign
rs155545068116:1,401,995T/A—pathogenic
rs203469207216:1,401,998T/C—uncertain significance
rs147325552516:1,401,999C/T—likely benign
rs156717954716:1,402,002C/T—likely benign
rs77115580316:1,402,003G/C—uncertain significance
rs203469228816:1,402,005G/T—likely benign
rs77636117316:1,402,008C/T—conflicting classifications of pathogenicity
rs159660335116:1,402,011G/T—likely benign
rs254818555416:1,402,013C/T—uncertain significance
rs94207949716:1,402,014C/T—likely benign
rs214163274916:1,402,019G/C—likely pathogenic
rs57593349916:1,402,021G/C—uncertain significance
rs203469285516:1,402,023G/C—uncertain significance
rs254818557916:1,402,025G/C—likely benign
rs133658486616:1,402,026G/C—likely benign
rs214163276316:1,402,027C/T—likely benign
rs89778963116:1,402,029C/T—likely benign
rs254818558916:1,402,031G/A—likely benign
rs203469325516:1,402,033C/G—likely benign
rs121079810616:1,402,034G/C—likely benign
rs254818559716:1,402,036C/T—likely benign
rs99345402716:1,402,037C/T—likely benign
rs103032080416:1,402,038G/A—likely benign
rs76363997916:1,402,083C/G—likely benign
rs142785128116:1,402,086G/T—likely benign
rs75103636516:1,402,087G/T—likely benign
rs254818565616:1,402,088T/C—likely benign
rs117461269216:1,402,089C/T—likely benign
rs254818566116:1,402,092G/A—likely benign
rs56485317416:1,402,093C/A—likely benign
rs76718487716:1,402,095C/G—likely benign
rs143512582216:1,402,096C/T—likely benign
rs130207724916:1,402,097C/T—likely benign
rs52734818916:1,402,098C/T—likely benign
rs75416647816:1,402,099G/A—likely benign
rs77959730816:1,402,101A/G—likely pathogenic
rs75320835416:1,402,104G/T—likely benign
rs126677000616:1,402,107C/A—likely benign
rs75895461616:1,402,108G/A—uncertain significance
rs254818568016:1,402,110G/A—likely benign
rs77804283916:1,402,111C/G—uncertain significance
rs203469529416:1,402,113G/A—likely benign
rs98985938116:1,402,116A/G—likely benign
rs54762423116:1,402,117G/C—conflicting classifications of pathogenicity
rs214163294316:1,402,122A/C—likely benign
rs96715365716:1,402,123G/A—uncertain significance
rs13785382616:1,402,124C/Amissense variantuncertain significance
rs254818569516:1,402,127A/T—uncertain significance
rs132410265016:1,402,128G/A—likely benign
rs135588411316:1,402,134G/A—likely benign
rs98475556016:1,402,141G/A—uncertain significance
rs805250316:1,402,143G/C—conflicting classifications of pathogenicity
rs133141216016:1,402,144G/A—uncertain significance
rs92834331116:1,402,146G/A—likely benign
rs74926284416:1,402,152C/T—likely benign
rs121174007916:1,402,155G/C—likely benign
rs254818574616:1,402,159G/T—uncertain significance
rs155545071616:1,402,161G/A—likely pathogenic
rs254818575216:1,402,162T/C—likely pathogenic
rs126862431316:1,402,169C/T—likely benign
rs148302001416:1,402,170C/T—likely benign
rs76857461916:1,402,173G/A—likely benign
rs76132858116:1,402,177G/A—likely benign
rs20106488416:1,402,178C/T—likely benign
rs254818584816:1,402,224T/A—likely benign
rs254818585216:1,402,228C/T—likely benign
rs74906774316:1,402,230C/T—likely benign
rs254818585416:1,402,231T/C—likely benign
rs214163309616:1,402,232T/G—likely benign

Showing 100 of 612 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.