NT5C2

5'-nucleotidase, cytosolic II

Summary

This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

Known Variants223 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1078673610:104,849,116G/C—benign
rs1257322110:104,849,144A/C—likely benign
rs53637781910:104,849,430T/C—likely benign
rs89337383510:104,849,441C/T—likely benign
rs55341900310:104,849,444C/T—likely benign
rs76760192210:104,849,447C/T—likely benign
rs14103143510:104,849,450C/A—uncertain significance
rs11670224110:104,849,453T/C—likely benign
rs374038710:104,849,468G/A—benign
rs115843442910:104,849,471A/G—likely benign
rs93517803010:104,849,489C/T—likely benign
rs20020306010:104,849,496G/A—uncertain significance
rs124755843310:104,849,497C/T—uncertain significance
rs124465384410:104,849,524T/C—uncertain significance
rs75691324010:104,849,533T/C—uncertain significance
rs15106509510:104,849,543C/T—likely benign
rs36846726610:104,849,551G/A—uncertain significance
rs77416990010:104,849,553C/T—uncertain significance
rs156489596710:104,849,556T/C—uncertain significance
rs249379151710:104,849,579C/T—likely benign
rs37070993810:104,849,586G/A—uncertain significance
rs76654090810:104,849,587T/G—uncertain significance
rs93208488410:104,849,633G/A—likely benign
rs206624483510:104,849,642C/T—likely benign
rs36863729010:104,849,648C/T—likely benign
rs129859470410:104,849,673G/C—likely benign
rs89796553510:104,849,681C/G—likely benign
rs89474450710:104,850,350A/T—likely benign
rs206652647410:104,850,355A/T—likely benign
rs75329586810:104,850,366A/G—pathogenic
rs13871003010:104,850,404G/A—likely benign
rs249387384110:104,850,408T/C—uncertain significance
rs14296538510:104,850,410C/T—likely benign
rs213450486810:104,850,414A/G—pathogenic
rs124389903110:104,850,428T/C—likely benign
rs145226438710:104,850,430C/A—uncertain significance
rs213450608510:104,850,432G/A—uncertain significance
rs94886958110:104,850,440G/T—uncertain significance
rs141909073610:104,850,446A/T—pathogenic
rs103021963310:104,850,450C/T—uncertain significance
rs104862128010:104,850,458T/G—uncertain significance
rs95451163210:104,850,464G/A—likely benign
rs77123372910:104,850,494A/G—likely benign
rs143375509610:104,850,528A/G—uncertain significance
rs36767308110:104,850,548A/G—likely benign
rs373692410:104,850,568T/G—benign
rs373692310:104,850,569C/T—benign
rs3475812810:104,850,620C/A—benign
rs373692210:104,850,632A/G—benign
rs143086023110:104,850,692C/G—likely pathogenic
rs77625978610:104,850,701G/A—uncertain significance
rs129433325510:104,850,706T/C—uncertain significance
rs37417238110:104,850,729C/T—likely benign
rs88603765610:104,850,740——pathogenic
rs1119155110:104,850,835A/G—benign
rs1119155210:104,850,895G/A—likely benign
rs11302111010:104,851,124C/T—likely benign
rs1088383010:104,851,285G/A—benign
rs1709468310:104,851,301G/T—benign
rs249397654310:104,851,313A/T—likely benign
rs77500613210:104,851,360T/C—uncertain significance
rs104945090810:104,851,376G/A—likely benign
rs206691380610:104,851,390G/A—likely benign
rs76188392810:104,851,392A/G—likely benign
rs1119155310:104,851,396G/T—benign
rs7943848510:104,851,400G/A—benign
rs1221750110:104,851,889T/Cdownstream gene variant—
rs11184217810:104,852,121A/G——
rs378128110:104,852,648G/A—benign
rs74730344710:104,852,880T/C—likely benign
rs37598505610:104,852,894A/C—pathogenic
rs249408300410:104,852,906A/C—likely benign
rs13851336810:104,852,916T/C—uncertain significance
rs76046184510:104,852,930G/A—likely benign
rs75972471510:104,852,949A/G—likely pathogenic
rs76987328410:104,852,956G/A—pathogenic
rs159065848610:104,852,965G/C—uncertain significance
rs37029941310:104,852,966C/T—likely benign
rs14139149210:104,852,978T/C—benign
rs75764069210:104,852,999G/A—likely benign
rs78145372710:104,853,011A/G—likely benign
rs95886271510:104,853,014C/T—likely benign
rs141955547410:104,853,016A/G—likely benign
rs52901227610:104,853,053C/A—likely benign
rs88603765710:104,853,067C/A—pathogenic
rs37433840010:104,853,079A/C—uncertain significance
rs7284399710:104,853,290A/G—benign
rs227434110:104,853,503A/T—benign
rs249413964710:104,853,724C/G—uncertain significance
rs156492134210:104,853,735A/G—uncertain significance
rs91393714210:104,853,741C/T—uncertain significance
rs36823646810:104,853,742G/A—likely benign
rs74786839210:104,853,750G/A—uncertain significance
rs53978164910:104,853,754T/C—likely benign
rs249414212110:104,853,756G/A—likely benign
rs14433377710:104,853,775A/G—likely benign
rs1711544910:104,854,087A/C—likely benign
rs77531656210:104,854,155G/A—uncertain significance
rs206766376810:104,854,165C/T—likely benign
rs74910567410:104,854,177A/G—likely benign

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.