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MSeqDR Data Summary for the Term ANO5:
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
ENSG00000171714 MSeqDR Search EnsemblANO50071ENSG00000171714ENST00000324559ENSP00000315371anoctamin 5 [Source:HGNC Symbol;Acc:27337]1122214722223049031p14.32221472222304903ANO5ANO5-001HGNC SymbolHGNC transcript name234.49protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN20385927337ANO5NM_00114264927504


MSeqDR Master Exome Data Set M1: 103 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11122214765GCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRNA------het1
21122214822GTENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRrs734793930.2123-----hom2
31122214822GTENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRrs734793930.2123-----het8
41122214829GCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRrs1818642430.0013-----hom1
51122214877A+AGGAGGAGGGGAATGAGGAGGAGGENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRrs139514865------het4
61122214903GCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRrs127922590.7388-----het193
71122214903GCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN--5'_UTRrs127922590.7388-----hom459
81122239808AGENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.155A>Gp.N52Snon-synrs1437774030.00094G=31/A=8569;G=2/A=4404;G=33/A=12973lod=210:541TOLERATEDD-het4
91122242646C+AENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.184_185insAp.Q62NAnon-synNA--lod=56:399---het1
101122242721GAENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.259G>Ap.V87Inon-synrs349949270.0057A=2/G=8596;A=37/G=4369;A=39/G=12965lod=121:482TOLERATEDB-het2
111122242729TCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.267T>Cp.D89Dsynrs43120630.76276C=6875/T=1723;C=4106/T=300;C=10981/T=2023----het323
121122242729TCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.267T>Cp.D89Dsynrs43120630.76276C=6875/T=1723;C=4106/T=300;C=10981/T=2023----hom659
131122242741CTENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.279C>Tp.D93Dsynrs148516756-T=2/C=8596;T=0/C=4406;T=2/C=13002----het1
141122247513A+TENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN---17bp 3'_splice_siteNA------het3
151122248832C-TENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN---15bp 3'_splice_siters146983312------hom5
161122248832C-TENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMAN---15bp 3'_splice_siters146983312------het40
171122249088GAENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.604G>Ap.E202Knon-synrs1157505960.0193A=3/G=8597;A=150/G=4256;A=153/G=12853lod=260:563TOLERATEDB-het4
181122257740GCENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.680G>Cp.G227Anon-synrs1409032760.0056C=0/G=8600;C=38/G=4368;C=38/G=12968lod=67:419TOLERATEDB-het2
191122257752GTENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.692G>Tp.G231Vnon-synrs1378545230.0014T=10/G=8590;T=1/G=4405;T=11/G=12995lod=160:512DAMAGINGPHGMDhet1
201122261152CGENST00000324559ENSG000001717142221472222304903ENSP00000315371ANO51ANO5_HUMANc.800C>Gp.T267Snon-synrs1381444790.0102G=0/C=8600;G=91/C=4315;G=91/C=12915lod=39:361TOLERATEDB-het1
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       Transcripts and variants in the surrounding ANO5 11:22214722..22304903 region Gbrowse