Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

42 records found for search term B4galt2
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405690547CV3290698single nucleotide variantNM_003780.5(B4GALT2):c.-50C>Gnot specified [RCV004423611]uncertain significance14398111143981111Humanname
405690572CV3290702single nucleotide variantNM_003780.5(B4GALT2):c.-20G>Tnot specified [RCV004423615]uncertain significance14398114143981141Humanname
401772555CV2712793single nucleotide variantNM_003780.5(B4GALT2):c.82G>A (p.Val28Ile)not specified [RCV004314222]uncertain significance14398124243981242Humanname
405690526CV3290694single nucleotide variantNM_003780.5(B4GALT2):c.49C>A (p.Leu17Ile)not specified [RCV004423607]uncertain significance14398120943981209Humanname
407479249CV3423522single nucleotide variantNM_003780.5(B4GALT2):c.44C>T (p.Ala15Val)not specified [RCV004601939]uncertain significance14398120443981204Humanname
156373743CV2201376single nucleotide variantNM_003780.5(B4GALT2):c.205C>T (p.Arg69Trp)not specified [RCV004077499]uncertain significance14398136543981365Humanname
155915743CV2239549single nucleotide variantNM_003780.5(B4GALT2):c.224C>T (p.Ser75Phe)not specified [RCV004114547]uncertain significance14398138443981384Humanname
156083579CV2244487single nucleotide variantNM_003780.5(B4GALT2):c.211A>G (p.Asn71Asp)not specified [RCV004100445]uncertain significance14398137143981371Humanname
156273875CV2277841single nucleotide variantNM_003780.5(B4GALT2):c.262G>T (p.Gly88Cys)not specified [RCV004147261]uncertain significance14398142243981422Humanname
156177041CV2278325single nucleotide variantNM_003780.5(B4GALT2):c.131G>A (p.Arg44His)not specified [RCV004147623]uncertain significance14398129143981291Humanname
155931976CV2371068single nucleotide variantNM_003780.5(B4GALT2):c.191G>A (p.Ser64Asn)not specified [RCV004220824]uncertain significance14398135143981351Humanname
156161688CV2371524single nucleotide variantNM_003780.5(B4GALT2):c.232G>A (p.Gly78Arg)not specified [RCV004216776]uncertain significance14398139243981392Humanname
401767499CV2681683single nucleotide variantNM_003780.5(B4GALT2):c.130C>T (p.Arg44Cys)not specified [RCV004294234]uncertain significance14398129043981290Humanname
401734607CV2690632single nucleotide variantNM_003780.5(B4GALT2):c.286C>T (p.Pro96Ser)not specified [RCV004304718]uncertain significance14398144643981446Humanname
401879529CV2769642single nucleotide variantNM_003780.5(B4GALT2):c.100G>A (p.Val34Ile)not specified [RCV004351572]uncertain significance14398126043981260Humanname
405690534CV3290695single nucleotide variantNM_003780.5(B4GALT2):c.143G>A (p.Arg48Gln)not specified [RCV004423608]uncertain significance14398130343981303Humanname
405690539CV3290696single nucleotide variantNM_003780.5(B4GALT2):c.206G>A (p.Arg69Gln)not specified [RCV004423609]uncertain significance14398136643981366Humanname
597794198CV3628044single nucleotide variantNM_003780.5(B4GALT2):c.278C>T (p.Thr93Met)not specified [RCV004877570]likely benign14398143843981438Humanname
597726004CV3628054single nucleotide variantNM_003780.5(B4GALT2):c.164A>G (p.His55Arg)not specified [RCV004888341]uncertain significance14398132443981324Humanname
156238173CV2193614single nucleotide variantNM_003780.5(B4GALT2):c.419C>T (p.Thr140Ile)not specified [RCV004074219]uncertain significance14398179443981794Humanname
156138050CV2202791single nucleotide variantNM_003780.5(B4GALT2):c.685C>T (p.Arg229Cys)not specified [RCV004073654]uncertain significance14398500043985000Humanname
156341150CV2225768single nucleotide variantNM_003780.5(B4GALT2):c.686G>A (p.Arg229His)not specified [RCV004103180]uncertain significance14398500143985001Humanname
156108750CV2355424single nucleotide variantNM_003780.5(B4GALT2):c.502A>G (p.Ile168Val)not specified [RCV004205278]uncertain significance14398187743981877Humanname
401763994CV2700325single nucleotide variantNM_003780.5(B4GALT2):c.814C>T (p.Pro272Ser)not specified [RCV004310983]uncertain significance14398535143985351Humanname
405690554CV3290699single nucleotide variantNM_003780.5(B4GALT2):c.314T>C (p.Val105Ala)not specified [RCV004423612]uncertain significance14398168943981689Humanname
405690561CV3290700single nucleotide variantNM_003780.5(B4GALT2):c.511C>T (p.Arg171Trp)not specified [RCV004423613]uncertain significance14398188643981886Humanname
405690566CV3290701single nucleotide variantNM_003780.5(B4GALT2):c.523C>T (p.Arg175Cys)not specified [RCV004423614]uncertain significance14398189843981898Humanname
597794160CV3628024single nucleotide variantNM_003780.5(B4GALT2):c.694G>A (p.Asp232Asn)not specified [RCV004877558]uncertain significance14398500943985009Humanname
597794175CV3628035single nucleotide variantNM_003780.5(B4GALT2):c.561C>G (p.Asp187Glu)not specified [RCV004877563]uncertain significance14398487643984876Humanname
597794244CV3628065single nucleotide variantNM_003780.5(B4GALT2):c.499C>A (p.Pro167Thr)not specified [RCV004877584]uncertain significance14398187443981874Humanname
597726043CV3628074single nucleotide variantNM_003780.5(B4GALT2):c.305C>T (p.Pro102Leu)not specified [RCV004888347]uncertain significance14398146543981465Humanname
597726078CV3628082single nucleotide variantNM_003780.5(B4GALT2):c.856T>A (p.Phe286Ile)not specified [RCV004888352]uncertain significance14398539343985393Humanname
597794279CV3628093single nucleotide variantNM_003780.5(B4GALT2):c.488A>G (p.His163Arg)not specified [RCV004877595]uncertain significance14398186343981863Humanname
598266883CV3933461single nucleotide variantNM_003780.5(B4GALT2):c.691G>A (p.Gly231Ser)not specified [RCV005302050]uncertain significance14398500643985006Humanname
598232794CV3933471single nucleotide variantNM_003780.5(B4GALT2):c.914G>A (p.Arg305His)not specified [RCV005295466]uncertain significance14398556743985567Humanname
598232821CV3933480single nucleotide variantNM_003780.5(B4GALT2):c.358C>T (p.Arg120Trp)not specified [RCV005295470]uncertain significance14398173343981733Humanname
598266963CV3933491single nucleotide variantNM_003780.5(B4GALT2):c.382G>A (p.Val128Met)not specified [RCV005302067]uncertain significance14398175743981757Humanname
329370520CV2435631single nucleotide variantNM_003780.5(B4GALT2):c.1028G>A (p.Arg343Gln)not specified [RCV004254878]uncertain significance14399035743990357Humanname
329359808CV2462308single nucleotide variantNM_003780.5(B4GALT2):c.1100C>T (p.Ser367Leu)not specified [RCV004266298]uncertain significance14399042943990429Humanname
401734123CV2688410single nucleotide variantNM_003780.5(B4GALT2):c.1057C>G (p.Pro353Ala)not specified [RCV004299395]uncertain significance14399038643990386Humanname
405690859CV3290693single nucleotide variantNM_003780.5(B4GALT2):c.1073T>C (p.Ile358Thr)not specified [RCV004423606]uncertain significance14399040243990402Humanname
8625004CV80123single nucleotide variantNM_001005417.2(B4GALT2):c.837T>G (p.Gly279=)Malignant melanoma [RCV000060199]not provided14398537443985374Humanname