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MSeqDR Data Summary for the Term USB1:
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
ENSG00000103005 MSeqDR Search EnsemblUSB1006ENSG00000103005ENST00000561743ENSP00000454928U6 snRNA biogenesis 1 [Source:HGNC Symbol;Acc:25792]1658033450580555221q215803345058054446USB1USB1-012HGNC SymbolHGNC transcript name1549.63protein_codingprotein_codingensembl_havahavanaKNOWNPUTATIVE7965025792USB127514


MSeqDR Master Exome Data Set M1: 265 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11658035337GCENST00000219281ENSG000001030055803345058055522ENSP00000219281USB11USB1_HUMAN--5'_UTRrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
21658035337GCENST00000423271ENSG000001030055803345058055522ENSP00000409792USB11USB1_HUMAN--5'_UTRrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
31658035337GCENST00000539737ENSG000001030055803345058055522ENSP00000446143USB11USB1_HUMAN--5'_UTRrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
41658035337GCENST00000561568ENSG000001030055803345058055522ENSP00000457322USB11---5'_UTRrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
51658035337GCENST00000562534ENSG000001030055803345058055522-USB11-c.18G>Cp.V6Vsynrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
61658035337GCENST00000563149ENSG000001030055803345058055522ENSP00000454692USB11---5'_UTRrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
71658035337GCENST00000563207ENSG000001030055803345058055522-USB11-c.10G>Cp.A4Pnon-synrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
81658035337GCENST00000564387ENSG000001030055803345058055522ENSP00000457302USB11---5'_UTRrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
91658035337GCENST00000565662ENSG000001030055803345058055522-USB11-c.27G>Cp.V9Vsynrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
101658035337GCENST00000566292ENSG000001030055803345058055522-USB11-c.18G>Cp.V6Vsynrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
111658035337GCENST00000568848ENSG000001030055803345058055522-USB11-c.15G>Cp.V5Vsynrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
121658035337GCENST00000569252ENSG000001030055803345058055522-USB11-c.18G>Cp.V6Vsynrs735469490.0221C=0/G=8314;C=44/G=4132;C=44/G=12446----het1
131658035429CAENST00000219281ENSG000001030055803345058055522ENSP00000219281USB11USB1_HUMANc.42C>Ap.S14Ssynrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---het62
141658035429CAENST00000219281ENSG000001030055803345058055522ENSP00000219281USB11USB1_HUMANc.42C>Ap.S14Ssynrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---hom3
151658035429CAENST00000423271ENSG000001030055803345058055522ENSP00000409792USB11USB1_HUMANc.42C>Ap.S14Ssynrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---het62
161658035429CAENST00000423271ENSG000001030055803345058055522ENSP00000409792USB11USB1_HUMANc.42C>Ap.S14Ssynrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---hom3
171658035429CAENST00000539737ENSG000001030055803345058055522ENSP00000446143USB11USB1_HUMANc.42C>Ap.S14Ssynrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---het62
181658035429CAENST00000539737ENSG000001030055803345058055522ENSP00000446143USB11USB1_HUMANc.42C>Ap.S14Ssynrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---hom3
191658035429CAENST00000561568ENSG000001030055803345058055522ENSP00000457322USB11---5'_UTRrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---het62
201658035429CAENST00000561568ENSG000001030055803345058055522ENSP00000457322USB11---5'_UTRrs37435590.0726A=699/C=7891;A=72/C=4290;A=771/C=12181lod=143:500---hom3
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       Transcripts and variants in the surrounding USB1 16:58033450..58055522 region Gbrowse