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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 UQCRC2:

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
ENSG00000140740	UQCRC2	1	11	0	ENSG00000140740	ENST00000268379	ENSP00000268379	ubiquinol-cytochrome c reductase core protein II [Source:HGNC Symbol;Acc:12586]	16	21963981	21994981	1	p12.2	21963981	21994981	UQCRC2	UQCRC2-001	HGNC Symbol	HGNC transcript name	11	40.33	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7385	12586	UQCRC2	NM_003366	27514

MSeqDR Master Exome Data Set M1: 129 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	16	21964318	G	A	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	rs143927201	0.0126	-	-	-	-	-	het	7
2	16	21964345	G	A	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	16	21964370	C	A	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	rs73531759	0.0262	-	-	-	-	-	het	1
4	16	21964445	C	T	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
5	16	21964460	C	T	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	16	21964464	C	T	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	16	21964600	C	-A	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	1
8	16	21964664	C	T	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	rs144837302	0.0059	-	-	-	-	-	het	2
9	16	21964664	C	T	ENST00000565464	ENSG00000140740	21963981	21994981	ENSP00000457662	UQCRC2	1	-	-	-	5'_UTR	rs144837302	0.0059	-	-	-	-	-	het	2
10	16	21964710	C	T	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	NA	-	T=0/C=8600;T=19/C=4377;T=19/C=12977	-	-	-	-	het	1
11	16	21964710	C	T	ENST00000561553	ENSG00000140740	21963981	21994981	ENSP00000456232	UQCRC2	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=19/C=4377;T=19/C=12977	-	-	-	-	het	1
12	16	21964710	C	T	ENST00000563898	ENSG00000140740	21963981	21994981	ENSP00000456738	UQCRC2	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=19/C=4377;T=19/C=12977	-	-	-	-	het	1
13	16	21964710	C	T	ENST00000565331	ENSG00000140740	21963981	21994981	ENSP00000455088	UQCRC2	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=19/C=4377;T=19/C=12977	-	-	-	-	het	1
14	16	21964710	C	T	ENST00000565464	ENSG00000140740	21963981	21994981	ENSP00000457662	UQCRC2	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=19/C=4377;T=19/C=12977	-	-	-	-	het	1
15	16	21964710	C	T	ENST00000567757	ENSG00000140740	21963981	21994981	-	UQCRC2	1	-	c.19C>T	p.P7S	non-syn	NA	-	T=0/C=8600;T=19/C=4377;T=19/C=12977	-	-	-	-	het	1
16	16	21964713	G	T	ENST00000268379	ENSG00000140740	21963981	21994981	ENSP00000268379	UQCRC2	1	QCR2_HUMAN	-	-	5'_UTR	rs201397873	-	T=2/G=8598;T=0/G=4396;T=2/G=12994	-	-	-	-	het	3
17	16	21964713	G	T	ENST00000561553	ENSG00000140740	21963981	21994981	ENSP00000456232	UQCRC2	1	-	-	-	5'_UTR	rs201397873	-	T=2/G=8598;T=0/G=4396;T=2/G=12994	-	-	-	-	het	3
18	16	21964713	G	T	ENST00000563898	ENSG00000140740	21963981	21994981	ENSP00000456738	UQCRC2	1	-	-	-	5'_UTR	rs201397873	-	T=2/G=8598;T=0/G=4396;T=2/G=12994	-	-	-	-	het	3
19	16	21964713	G	T	ENST00000565331	ENSG00000140740	21963981	21994981	ENSP00000455088	UQCRC2	1	-	-	-	5'_UTR	rs201397873	-	T=2/G=8598;T=0/G=4396;T=2/G=12994	-	-	-	-	het	3
20	16	21964713	G	T	ENST00000565464	ENSG00000140740	21963981	21994981	ENSP00000457662	UQCRC2	1	-	-	-	5'_UTR	rs201397873	-	T=2/G=8598;T=0/G=4396;T=2/G=12994	-	-	-	-	het	3

** 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 UQCRC2 16:21963981..21994981 region Gbrowse