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MSeqDR Data Summary for the Term HINT1:
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
ENSG00000169567 MSeqDR Search EnsemblHINT1117ENSG00000169567ENST00000304043ENSP00000304229histidine triad nucleotide binding protein 1 [Source:HGNC Symbol;Acc:4912]5130494720130507428-1q23.3130494720130501178HINT1HINT1-001HGNC SymbolHGNC transcript name1043.5protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN30944912HINT1NM_00534027527


MSeqDR Master Exome Data Set M1: 142 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
15130494778TGENST00000304043ENSG00000169567130494720130507428ENSP00000304229HINT1-1HINT1_HUMAN--3'_UTRrs77150670.1795-----het29
25130494950AGENST00000304043ENSG00000169567130494720130507428ENSP00000304229HINT1-1HINT1_HUMAN--3'_UTRNA------het1
35130495237CTENST00000304043ENSG00000169567130494720130507428ENSP00000304229HINT1-1HINT1_HUMANc.284G>Ap.R95Qnon-synNA-T=1/C=8599;T=0/C=4406;T=1/C=13005lod=408:612DAMAGINGD-het1
45130495237CTENST00000506207ENSG00000169567130494720130507428-HINT1-1-c.303G>Ap.S101SsynNA-T=1/C=8599;T=0/C=4406;T=1/C=13005lod=408:612DAMAGINGD-het1
55130495237CTENST00000508495ENSG00000169567130494720130507428ENSP00000424974HINT1-1---3'_UTRNA-T=1/C=8599;T=0/C=4406;T=1/C=13005lod=408:612DAMAGINGD-het1
65130495237CTENST00000511475ENSG00000169567130494720130507428ENSP00000427008HINT1-1---3'_UTRNA-T=1/C=8599;T=0/C=4406;T=1/C=13005lod=408:612DAMAGINGD-het1
75130495237CTENST00000513345ENSG00000169567130494720130507428ENSP00000421608HINT1-1---3'_UTRNA-T=1/C=8599;T=0/C=4406;T=1/C=13005lod=408:612DAMAGINGD-het1
85130496569TGENST00000504202ENSG00000169567130494720130507428ENSP00000425260HINT1-1---3'_UTRNA------het4
95130496569TGENST00000511475ENSG00000169567130494720130507428ENSP00000427008HINT1-1---3'_UTRNA------het4
105130496595GAENST00000504202ENSG00000169567130494720130507428ENSP00000425260HINT1-1----18bp 3'_splice_siters1154289310.0279-----het2
115130496595GAENST00000511475ENSG00000169567130494720130507428ENSP00000427008HINT1-1----18bp 3'_splice_siters1154289310.0279-----het2
125130497819C-TAENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs199790704------het1
135130497872CAENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs10079664------het1
145130497890GAENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs1875085260.0016-----het2
155130497896TAENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs38642840.1421-----hom3
165130497896TAENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs38642840.1421-----het20
175130497902ACENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRNA------het1
185130497902AGENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs38642850.1314-----het23
195130497902AGENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs38642850.1314-----hom3
205130497917GAENST00000508488ENSG00000169567130494720130507428ENSP00000427499HINT1-1---3'_UTRrs46440020.1742-----het26
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       Transcripts and variants in the surrounding HINT1 5:130494720..130507428 region Gbrowse