PCED1B

PC-esterase domain containing 1B

Summary

This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7310141512:47,484,039A/Gintron variant
rs7311024012:47,602,226T/Ccoding sequence variant
rs86058512:47,611,541C/Gupstream gene variant
rs76790962012:47,628,868G/Auncertain significance
rs14392827312:47,628,929C/Guncertain significance
rs194393763812:47,629,036G/Auncertain significance
rs76321996112:47,629,154A/Guncertain significance
rs20127487012:47,629,205T/Cuncertain significance
rs132878850912:47,629,219C/Tuncertain significance
rs95440280412:47,629,276G/Cuncertain significance
rs54896536312:47,629,370G/Auncertain significance
rs20136607712:47,629,562G/Auncertain significance
rs76480177612:47,629,583C/Tuncertain significance
rs78015295312:47,629,630G/Auncertain significance
rs74937285612:47,629,751T/Cuncertain significance
rs119184527512:47,630,020C/Auncertain significance
rs13854795712:47,630,041G/Auncertain significance
rs194398559512:47,630,077C/Tuncertain significance
rs37483542712:47,630,108G/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.