SLC35B4

solute carrier family 35 member B4

Summary

Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]

Known Variants21 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7764837837:133,979,615A/T—uncertain significance
rs7700059977:133,979,755G/A—uncertain significance
rs7618270707:133,979,767C/T—uncertain significance
rs12335935987:133,979,770G/A—uncertain significance
rs7525307517:133,979,776C/T—uncertain significance
rs1475980267:133,979,799G/C—uncertain significance
rs24867677437:133,979,808A/C—uncertain significance
rs7607317027:133,979,829T/C—uncertain significance
rs7485647917:133,981,170A/G—uncertain significance
rs2012808257:133,981,201C/T—uncertain significance
rs5753229377:133,981,213A/G—uncertain significance
rs20589767:133,981,379G/Tintron variant—
rs7495368047:133,984,326C/T—likely benign
rs25442157:133,987,896T/Cintron variant—
rs25982937:133,989,882C/Tintron variant—
rs25982977:133,993,001T/Gintron variant—
rs25442217:133,993,014G/T——
rs1460867977:133,994,136G/A—uncertain significance
rs8666734957:134,001,500G/A—uncertain significance
rs16467337:134,002,228C/Aregulatory region variant—
rs358972427:134,004,041G/Aupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.