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MSeqDR Data Summary for the Term AKR1D1:
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
ENSG00000122787 MSeqDR Search EnsemblAKR1D1105ENSG00000122787ENST00000468877aldo-keto reductase family 1, member D1 [Source:HGNC Symbol;Acc:388]71376870701378027321q33137687070137801612AKR1D1AKR1D1-004HGNC SymbolHGNC transcript name639.29protein_codingprocessed_transcriptensembl_havahavanaKNOWNKNOWN6718388AKR1D127506


MSeqDR Master Exome Data Set M1: 151 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
17137761285TGENST00000242375ENSG00000122787137687070137802732ENSP00000242375AKR1D11AK1D1_HUMANc.21T>Gp.S7Rnon-synNA--lod=68:420TOLERATEDB-het2
27137761285TGENST00000411726ENSG00000122787137687070137802732ENSP00000402374AKR1D11AK1D1_HUMANc.21T>Gp.S7Rnon-synNA--lod=68:420TOLERATEDB-het2
37137761285TGENST00000432161ENSG00000122787137687070137802732ENSP00000389197AKR1D11AK1D1_HUMANc.21T>Gp.S7Rnon-synNA--lod=68:420TOLERATEDB-het2
47137761285TGENST00000438242ENSG00000122787137687070137802732ENSP00000397042AKR1D11-c.21T>Gp.S7Rnon-synNA--lod=68:420TOLERATEDB-het2
57137773471CTENST00000242375ENSG00000122787137687070137802732ENSP00000242375AKR1D11AK1D1_HUMANc.218C>Tp.A73Vnon-synNA---DAMAGINGP-het1
67137773471CTENST00000411726ENSG00000122787137687070137802732ENSP00000402374AKR1D11AK1D1_HUMANc.218C>Tp.A73Vnon-synNA---DAMAGINGP-het1
77137773471CTENST00000432161ENSG00000122787137687070137802732ENSP00000389197AKR1D11AK1D1_HUMANc.218C>Tp.A73Vnon-synNA---DAMAGINGP-het1
87137773515GTENST00000242375ENSG00000122787137687070137802732ENSP00000242375AKR1D11AK1D1_HUMAN--+1bp 5'_splice_siters201988060-T=1/G=8599;T=1/G=4405;T=2/G=13004lod=63:412---het3
97137773515GTENST00000411726ENSG00000122787137687070137802732ENSP00000402374AKR1D11AK1D1_HUMAN--+1bp 5'_splice_siters201988060-T=1/G=8599;T=1/G=4405;T=2/G=13004lod=63:412---het3
107137773515GTENST00000432161ENSG00000122787137687070137802732ENSP00000389197AKR1D11AK1D1_HUMAN--+1bp 5'_splice_siters201988060-T=1/G=8599;T=1/G=4405;T=2/G=13004lod=63:412---het3
117137776590ATENST00000242375ENSG00000122787137687070137802732ENSP00000242375AKR1D11AK1D1_HUMANc.338A>Tp.Y113Fnon-synNA--lod=93:454DAMAGINGP-hom1
127137776590ATENST00000411726ENSG00000122787137687070137802732ENSP00000402374AKR1D11AK1D1_HUMANc.338A>Tp.Y113Fnon-synNA--lod=93:454DAMAGINGP-hom1
137137776590ATENST00000432161ENSG00000122787137687070137802732ENSP00000389197AKR1D11AK1D1_HUMANc.338A>Tp.Y113Fnon-synNA--lod=93:454DAMAGINGP-hom1
147137776590ATENST00000438242ENSG00000122787137687070137802732ENSP00000397042AKR1D11-c.170A>Tp.Y57Fnon-synNA--lod=93:454DAMAGINGP-hom1
157137776590ATENST00000468877ENSG00000122787137687070137802732-AKR1D11-c.248A>Tp.Y83Fnon-synNA--lod=93:454DAMAGINGP-hom1
167137776590ATENST00000470851ENSG00000122787137687070137802732-AKR1D11-c.2A>Tp.Y1Fnon-synNA--lod=93:454DAMAGINGP-hom1
177137776597TCENST00000242375ENSG00000122787137687070137802732ENSP00000242375AKR1D11AK1D1_HUMANc.345T>Cp.D115Dsynrs146747335-C=1/T=8599;C=0/T=4406;C=1/T=13005lod=93:454---het1
187137776597TCENST00000411726ENSG00000122787137687070137802732ENSP00000402374AKR1D11AK1D1_HUMANc.345T>Cp.D115Dsynrs146747335-C=1/T=8599;C=0/T=4406;C=1/T=13005lod=93:454---het1
197137776597TCENST00000432161ENSG00000122787137687070137802732ENSP00000389197AKR1D11AK1D1_HUMANc.345T>Cp.D115Dsynrs146747335-C=1/T=8599;C=0/T=4406;C=1/T=13005lod=93:454---het1
207137776597TCENST00000438242ENSG00000122787137687070137802732ENSP00000397042AKR1D11-c.177T>Cp.D59Dsynrs146747335-C=1/T=8599;C=0/T=4406;C=1/T=13005lod=93:454---het1
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       Transcripts and variants in the surrounding AKR1D1 7:137687070..137802732 region Gbrowse