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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ENSG00000156467:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000156467	UQCRB	1	3	6	ENSG00000156467	ENST00000287022	ENSP00000287022	ubiquinol-cytochrome c reductase binding protein [Source:HGNC Symbol;Acc:12582]	8	97238148	97247862	-1	q22.1	97238148	97247862	UQCRB	UQCRB-001	HGNC Symbol	HGNC transcript name	9	38.18	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7381	12582	UQCRB	NM_006294	27523

MSeqDR Master Exome Data Set M1: 198 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	8	97238241	G	A	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	8	97238356	T	C	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs114874566	0.0252	-	-	-	-	-	het	6
3	8	97238472	A	T	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs13260865	0.40145	-	-	-	-	-	het	318
4	8	97238472	A	T	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs13260865	0.40145	-	-	-	-	-	hom	139
5	8	97238524	C	T	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs182383515	0.0022	-	-	-	-	-	het	1
6	8	97238526	A	G	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs186484603	0.0085	-	-	-	-	-	het	1
7	8	97238650	C	T	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	8	97238661	C	A	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs13261690	0.39205	-	-	-	-	-	het	319
9	8	97238661	C	A	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs13261690	0.39205	-	-	-	-	-	hom	139
10	8	97238769	A	G	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs13261747	0.39831	-	-	-	-	-	het	318
11	8	97238769	A	G	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs13261747	0.39831	-	-	-	-	-	hom	138
12	8	97238793	A	G	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs117580915	0.01698	-	lod=14:251	-	-	-	het	21
13	8	97238793	A	G	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs117580915	0.01698	-	lod=14:251	-	-	-	hom	1
14	8	97238857	T	C	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
15	8	97239118	C	A	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs78131437	0.1647	-	-	-	-	-	het	10
16	8	97239126	T	C	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs7827095	0.7096	-	-	-	-	-	het	316
17	8	97239126	T	C	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs7827095	0.7096	-	-	-	-	-	hom	154
18	8	97239202	C	T	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs146632605	0.0174	-	-	-	-	-	het	1
19	8	97239573	G	A	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs148360306	0.0043	-	-	-	-	-	het	1
20	8	97239613	A	C	ENST00000287022	ENSG00000156467	97238148	97247862	ENSP00000287022	UQCRB	-1	QCR7_HUMAN	-	-	3'_UTR	rs2292836	0.38624	-	-	-	-	-	het	321

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding UQCRB 8:97238148..97247862 region Gbrowse