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MSeqDR Data Summary for the Term RHBDF2:
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
ENSG00000129667 MSeqDR Search EnsemblRHBDF2002ENSG00000129667ENST00000589526ENSP00000467677rhomboid 5 homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:20788]177446697374497872-1q25.17447581874489284RHBDF2RHBDF2-013HGNC SymbolHGNC transcript name1957.78protein_codingprotein_codingensembl_havahavanaKNOWNKNOWN7965120788RHBDF227509


MSeqDR Master Exome Data Set M1: 318 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11774467664CGENST00000313080ENSG000001296677446697374497872ENSP00000322775RHBDF2-1RHDF2_HUMAN--3'_UTRrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----het34
21774467664CGENST00000313080ENSG000001296677446697374497872ENSP00000322775RHBDF2-1RHDF2_HUMAN--3'_UTRrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----hom2
31774467664CGENST00000389760ENSG000001296677446697374497872ENSP00000374410RHBDF2-1RHDF2_HUMAN--3'_UTRrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----het34
41774467664CGENST00000389760ENSG000001296677446697374497872ENSP00000374410RHBDF2-1RHDF2_HUMAN--3'_UTRrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----hom2
51774467664CGENST00000590168ENSG000001296677446697374497872-RHBDF2-1-c.1974G>Cp.L658Lsynrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----het34
61774467664CGENST00000590168ENSG000001296677446697374497872-RHBDF2-1-c.1974G>Cp.L658Lsynrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----hom2
71774467664CGENST00000591885ENSG000001296677446697374497872ENSP00000466867RHBDF2-1RHDF2_HUMAN--3'_UTRrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----het34
81774467664CGENST00000591885ENSG000001296677446697374497872ENSP00000466867RHBDF2-1RHDF2_HUMAN--3'_UTRrs767645100.0769G=125/C=8443;G=212/C=4168;G=337/C=12611----hom2
91774467755CTENST00000313080ENSG000001296677446697374497872ENSP00000322775RHBDF2-1RHDF2_HUMANc.2531G>Ap.R844Hnon-synNA-T=1/C=8593;T=1/C=4401;T=2/C=12994lod=370:601TOLERATEDB-het2
101774467755CTENST00000389760ENSG000001296677446697374497872ENSP00000374410RHBDF2-1RHDF2_HUMANc.2444G>Ap.R815Hnon-synNA-T=1/C=8593;T=1/C=4401;T=2/C=12994lod=370:601TOLERATEDB-het2
111774467755CTENST00000590168ENSG000001296677446697374497872-RHBDF2-1-c.1883G>Ap.R628Hnon-synNA-T=1/C=8593;T=1/C=4401;T=2/C=12994lod=370:601TOLERATEDB-het2
121774467755CTENST00000591885ENSG000001296677446697374497872ENSP00000466867RHBDF2-1RHDF2_HUMANc.2444G>Ap.R815Hnon-synNA-T=1/C=8593;T=1/C=4401;T=2/C=12994lod=370:601TOLERATEDB-het2
131774467762TGENST00000313080ENSG000001296677446697374497872ENSP00000322775RHBDF2-1RHDF2_HUMANc.2524A>Cp.T842Pnon-synrs201411643--lod=370:601DAMAGINGD-het7
141774467762TGENST00000389760ENSG000001296677446697374497872ENSP00000374410RHBDF2-1RHDF2_HUMANc.2437A>Cp.T813Pnon-synrs201411643--lod=370:601DAMAGINGD-het7
151774467762TGENST00000590168ENSG000001296677446697374497872-RHBDF2-1-c.1876A>Cp.T626Pnon-synrs201411643--lod=370:601DAMAGINGD-het7
161774467762TGENST00000591885ENSG000001296677446697374497872ENSP00000466867RHBDF2-1RHDF2_HUMANc.2437A>Cp.T813Pnon-synrs201411643--lod=370:601DAMAGINGD-het7
171774467810AGENST00000313080ENSG000001296677446697374497872ENSP00000322775RHBDF2-1RHDF2_HUMANc.2476T>Cp.Y826Hnon-synNA--lod=370:601TOLERATEDB-het1
181774467810AGENST00000389760ENSG000001296677446697374497872ENSP00000374410RHBDF2-1RHDF2_HUMANc.2389T>Cp.Y797Hnon-synNA--lod=370:601TOLERATEDB-het1
191774467810AGENST00000590168ENSG000001296677446697374497872-RHBDF2-1-c.1828T>Cp.Y610Hnon-synNA--lod=370:601TOLERATEDB-het1
201774467810AGENST00000591885ENSG000001296677446697374497872ENSP00000466867RHBDF2-1RHDF2_HUMANc.2389T>Cp.Y797Hnon-synNA--lod=370:601TOLERATEDB-het1
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       Transcripts and variants in the surrounding RHBDF2 17:74466973..74497872 region Gbrowse