MSeqDR Central Portal

MSeqDR Data Summary for the Term ENSG00000269433:
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
ENSG00000269433 MSeqDR Search EnsemblOPN1MW005ENSG00000269433ENST00000599405ENSP00000469970HG1497_PATCH1534260251534394791q28153426025153439479OPN1MWOPN1MW-201UniProtKB Gene NameUniProt transcript name152.95protein_codingprotein_codingensemblensemblNOVELNOVEL10106023300


MSeqDR Master Exome Data Set M1: 6 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1X153455654CTENST00000369935ENSG00000147380153448107153461633ENSP00000358951OPN1MW1OPSG_HUMANc.521C>Tp.A174Vnon-synrs7316130.5-lod=114:475TOLERATEDB-hom1
2X153455654CTENST00000430054ENSG00000147380153448107153461633ENSP00000394838OPN1MW1-c.108C>Tp.C36Csynrs7316130.5-lod=114:475TOLERATEDB-hom1
3X153455654CTENST00000468495ENSG00000147380153448107153461633-OPN1MW1-c.531C>Tp.C177Csynrs7316130.5-lod=114:475TOLERATEDB-hom1
4X153455665AGENST00000369935ENSG00000147380153448107153461633ENSP00000358951OPN1MW1OPSG_HUMANc.532A>Gp.I178Vnon-synrs5742604--lod=114:475TOLERATEDB-hom1
5X153455665AGENST00000430054ENSG00000147380153448107153461633ENSP00000394838OPN1MW1-c.119A>Gp.D40Gnon-synrs5742604--lod=114:475TOLERATEDB-hom1
6X153455665AGENST00000468495ENSG00000147380153448107153461633-OPN1MW1-c.542A>Gp.D181Gnon-synrs5742604--lod=114:475TOLERATEDB-hom1
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       Transcripts and variants in the surrounding OPN1MW X:153448107..153461633 region Gbrowse