SPTLC2

serine palmitoyltransferase long chain base subunit 2

Summary

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]

Known Variants546 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37041277114:77,972,374A/G—benign
rs207930369414:77,972,458C/A—uncertain significance
rs5604035914:77,972,547G/C—benign
rs156676320914:77,972,559G/A—uncertain significance
rs88605083014:77,972,609T/G—uncertain significance
rs88605083114:77,972,712A/G—uncertain significance
rs14057619514:77,972,735G/T—benign
rs75376137414:77,972,775T/C—uncertain significance
rs14281715214:77,972,828G/A—benign
rs1710588614:77,973,096T/C—benign
rs207930773914:77,973,117G/A—uncertain significance
rs1343014:77,973,232G/C—benign
rs802188614:77,973,269A/G—benign
rs13932537514:77,973,270T/C—conflicting classifications of pathogenicity
rs207930892214:77,973,324T/C—uncertain significance
rs89284710014:77,973,595A/T—uncertain significance
rs36852498814:77,973,619C/T—uncertain significance
rs95556570014:77,973,677T/A—uncertain significance
rs88605083214:77,973,679T/G—uncertain significance
rs15000792314:77,973,713G/A—benign
rs53880959314:77,973,785T/G—benign
rs19321515514:77,973,802G/A—uncertain significance
rs54882067914:77,973,872G/A—uncertain significance
rs207931183214:77,973,945G/T—uncertain significance
rs1013209514:77,973,982T/C—benign
rs7894717814:77,974,124T/C—benign
rs14521866914:77,974,149G/T—benign
rs1115926814:77,974,181A/C—benign
rs7582340214:77,974,196C/A—benign
rs88605083314:77,974,225C/T—uncertain significance
rs11679418614:77,974,351C/T—benign
rs14354271514:77,974,429G/A—benign
rs4557783414:77,974,496C/T—benign
rs54263811614:77,974,512C/A—uncertain significance
rs14070193314:77,974,519C/T—benign
rs99139938714:77,974,520G/A—uncertain significance
rs207931561014:77,974,575C/G—uncertain significance
rs11713168314:77,974,588G/A—benign
rs14443050214:77,974,590C/T—benign
rs18559648814:77,974,597A/C—benign
rs37126580014:77,974,696C/G—benign
rs11213301514:77,974,808G/A—uncertain significance
rs88605083414:77,974,814C/T—uncertain significance
rs7473067314:77,974,815G/A—benign
rs102197049914:77,974,818A/G—uncertain significance
rs99681084914:77,974,842C/G—uncertain significance
rs88605083514:77,974,959C/T—uncertain significance
rs14660268314:77,974,961A/C—benign
rs106327114:77,974,990C/T—benign
rs236416014:77,975,015A/T—benign
rs53000930114:77,975,101T/A—benign
rs106327014:77,975,103T/G—benign
rs88605083614:77,975,170A/G—uncertain significance
rs88605083714:77,975,173G/A—uncertain significance
rs88605083814:77,975,231T/C—uncertain significance
rs146262359614:77,975,247T/C—uncertain significance
rs117326444214:77,975,279C/A—uncertain significance
rs88605083914:77,975,312G/C—uncertain significance
rs207931919114:77,975,341G/A—uncertain significance
rs11427499114:77,975,353G/A—benign
rs56691164414:77,975,366G/T—uncertain significance
rs7720016714:77,975,403G/A—benign
rs207932017614:77,975,543T/C—uncertain significance
rs7597725114:77,975,593G/C—benign
rs36968127614:77,975,661C/T—benign
rs56113794114:77,975,665G/A—benign
rs88605084114:77,975,667G/A—uncertain significance
rs134084656814:77,975,780A/G—uncertain significance
rs56022359314:77,975,820G/C—uncertain significance
rs19198949014:77,975,833G/A—uncertain significance
rs77432837714:77,975,850C/T—uncertain significance
rs13896083014:77,975,878T/G—benign
rs1014702314:77,975,925T/C—benign
rs14287787414:77,975,928G/T—benign
rs140739463414:77,975,955T/C—uncertain significance
rs7857738814:77,975,982G/A—benign
rs76290617514:77,976,005T/G—uncertain significance
rs14741639314:77,976,252G/A—benign
rs14803405314:77,976,289C/T—benign
rs88605084214:77,976,313G/A—uncertain significance
rs1115926914:77,976,325T/C—benign
rs88605084314:77,976,352G/A—uncertain significance
rs37701836714:77,976,441T/C—benign
rs1782456714:77,976,450T/G—benign
rs4549339514:77,976,468T/C—benign
rs207932575214:77,976,630A/C—uncertain significance
rs88605084414:77,976,691T/A—uncertain significance
rs88605084514:77,976,795A/G—uncertain significance
rs932364414:77,976,885G/A—benign
rs14361099714:77,976,898C/T—benign
rs14629517314:77,976,918C/T—benign
rs207932762014:77,976,969C/T—uncertain significance
rs4548029714:77,976,972C/G—benign
rs117571650614:77,977,005C/T—uncertain significance
rs76953537714:77,977,015C/T—uncertain significance
rs88605084614:77,977,106C/T—uncertain significance
rs54232227514:77,977,170G/A—uncertain significance
rs11670234514:77,977,187C/A—benign
rs8024493214:77,977,406T/C—benign
rs53253352214:77,977,434C/G—uncertain significance

Showing 100 of 546 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.