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MSeqDR Data Summary for the Term B3GALT6:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000176022 MSeqDR Search EnsemblB3GALT60017ENSG00000176022ENST00000379198ENSP00000368496UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 [Source:HGNC Symbol;Acc:17978]1116762911704211p36.3311676291170421B3GALT6B3GALT6-001HGNC SymbolHGNC transcript name164.2protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN12679217978B3GALT6NM_08060527511


MSeqDR Master Exome Data Set M1: 47 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
111167796CTENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.138C>Tp.S46Ssynrs1907965820.0899-----het1
211168094CTENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.436C>Tp.H146Ynon-synNA--lod=421:615DAMAGINGP-het1
311168141GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.483G>Ap.A161AsynNA-A=3/G=8269;A=0/G=4188;A=3/G=12457lod=134:493---het1
411168143GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.485G>Ap.R162Qnon-synNA-A=3/G=8243;A=0/G=4184;A=3/G=12427lod=134:493DAMAGINGD-het1
511168180GCENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.522G>Cp.E174Dnon-synrs120850090.1857C=146/G=6572;C=625/G=2661;C=771/G=9233lod=156:509TOLERATEDB-hom7
611168180GCENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.522G>Cp.E174Dnon-synrs120850090.1857C=146/G=6572;C=625/G=2661;C=771/G=9233lod=156:509TOLERATEDB-het74
711168205T+GENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.547_548insGp.W183NAnon-synNA--lod=156:509---het2
811168239C+GENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.581_582insGp.P194NAnon-synNA--lod=32:340---het1
911168262GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.604G>Ap.A202Tnon-synNA-A=1/G=7019;A=0/G=3490;A=1/G=10509lod=330:589TOLERATEDB-het1
1011168290CTENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.632C>Tp.P211Lnon-synNA--lod=330:589DAMAGINGD-het2
1111168401GCENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.743G>Cp.W248Snon-synNA--lod=205:538DAMAGINGD-het1
1211168411GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.753G>Ap.P251PsynNA-A=3/G=8115;A=0/G=4040;A=3/G=12155----het4
1311168491CTENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.833C>Tp.T278Mnon-synNA--lod=144:500DAMAGINGP-het1
1411168567GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMANc.909G>Ap.E303EsynNA-A=0/G=7928;A=9/G=3995;A=9/G=11923lod=213:542---het1
1511168843CTENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMAN--3'_UTRrs1487548560.0085-----het18
1611169094GCENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMAN--3'_UTRrs455740350.0276-----het25
1711169096GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMAN--3'_UTRrs1508301530.00097-----het1
1811169117GAENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMAN--3'_UTRNA------het3
1911169120CTENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMAN--3'_UTRrs1396038210.001-----het3
2011169264TGENST00000379198ENSG0000017602211676291170421ENSP00000368496B3GALT61B3GT6_HUMAN--3'_UTRrs1445272170.0086-----het6
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       Transcripts and variants in the surrounding B3GALT6 1:1167629..1170421 region Gbrowse