COLGALT2

collagen beta(1-O)galactosyltransferase 2

Summary

Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants61 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7721990601:183,907,924C/Tuncertain significance
rs1503090801:183,907,968C/Tuncertain significance
rs1462073681:183,907,989C/Tuncertain significance
rs5344864001:183,908,020C/Tuncertain significance
rs1428290511:183,908,026C/Tuncertain significance
rs3767730251:183,908,041C/Tuncertain significance
rs25261030861:183,908,044A/Guncertain significance
rs7553482271:183,908,115G/Tuncertain significance
rs7589291831:183,908,148T/Cuncertain significance
rs1995325901:183,908,167C/Tuncertain significance
rs7591724741:183,909,716C/Tuncertain significance
rs7644869321:183,909,733A/Guncertain significance
rs9212256951:183,909,796T/Cuncertain significance
rs1509243681:183,909,845C/Tuncertain significance
rs25261088241:183,909,911T/Cuncertain significance
rs7474165141:183,913,408C/Tuncertain significance
rs7755400861:183,913,436T/Guncertain significance
rs7671711701:183,913,448G/Cuncertain significance
rs5398791631:183,913,449A/Tuncertain significance
rs7745054611:183,914,583A/Guncertain significance
rs1402769481:183,914,627G/Auncertain significance
rs25261241601:183,914,640C/Tuncertain significance
rs16703818651:183,920,162A/Tuncertain significance
rs16705077491:183,923,931C/Auncertain significance
rs1415377561:183,933,115T/Cuncertain significance
rs5494610921:183,933,128C/Guncertain significance
rs7570643161:183,938,423G/Auncertain significance
rs25261985791:183,938,427A/Guncertain significance
rs1443177761:183,938,447G/Auncertain significance
rs10009987931:183,938,456T/Cuncertain significance
rs7790823491:183,938,468G/Cuncertain significance
rs12834464231:183,938,538G/Cuncertain significance
rs2013811671:183,938,552C/Guncertain significance
rs1431562701:183,938,555G/Auncertain significance
rs2000712361:183,938,565A/Guncertain significance
rs7631201481:183,938,580C/Tuncertain significance
rs14835693061:183,942,802A/Cuncertain significance
rs7790878451:183,942,814A/Guncertain significance
rs1447661451:183,942,838A/Guncertain significance
rs30100441:183,943,809C/Aintron variant
rs7660213621:183,944,262G/Tuncertain significance
rs7518445961:183,944,283A/Guncertain significance
rs7530515921:183,944,298G/Auncertain significance
rs16711559591:183,944,319T/Cuncertain significance
rs7712262041:183,944,331A/Guncertain significance
rs7769823881:183,944,335C/Tuncertain significance
rs127519801:183,946,987G/Aintron variant
rs127466061:183,968,532G/Tintron variant
rs121363161:183,986,964A/Tintron variant
rs600574661:183,989,017A/Gintron variant
rs571783581:183,989,106G/Aintron variant
rs605912051:183,995,624C/Gintron variant
rs7561991:184,002,874A/Gregulatory region variant
rs107529291:184,005,745G/Cregulatory region variant
rs25264153711:184,006,275C/Auncertain significance
rs12618796591:184,006,284G/Auncertain significance
rs7588800471:184,006,343A/Cuncertain significance
rs25264162951:184,006,374C/Guncertain significance
rs25264167271:184,006,451A/Tuncertain significance
rs12013069151:184,006,473C/Auncertain significance
rs38143331:184,007,119C/Tregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.