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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 STRA6:

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
ENSG00000137868	STRA6	0	0	20	ENSG00000137868	ENST00000574278	ENSP00000458827	stimulated by retinoic acid 6 [Source:HGNC Symbol;Acc:30650]	15	74471807	74504608	-1	q24.1	74472343	74500395	STRA6	STRA6-011	HGNC Symbol	HGNC transcript name	21	55.21	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	64220	30650	STRA6	NM_001199041	27521

MSeqDR Master Exome Data Set M1: 778 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	15	74471852	A	G	ENST00000323940	ENSG00000137868	74471807	74504608	ENSP00000326085	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
2	15	74471852	A	G	ENST00000323940	ENSG00000137868	74471807	74504608	ENSP00000326085	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
3	15	74471852	A	G	ENST00000395105	ENSG00000137868	74471807	74504608	ENSP00000378537	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
4	15	74471852	A	G	ENST00000395105	ENSG00000137868	74471807	74504608	ENSP00000378537	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
5	15	74471852	A	G	ENST00000416286	ENSG00000137868	74471807	74504608	ENSP00000400403	STRA6	-1	-	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
6	15	74471852	A	G	ENST00000416286	ENSG00000137868	74471807	74504608	ENSP00000400403	STRA6	-1	-	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
7	15	74471852	A	G	ENST00000423167	ENSG00000137868	74471807	74504608	ENSP00000413012	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
8	15	74471852	A	G	ENST00000423167	ENSG00000137868	74471807	74504608	ENSP00000413012	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
9	15	74471852	A	G	ENST00000449139	ENSG00000137868	74471807	74504608	ENSP00000410221	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
10	15	74471852	A	G	ENST00000449139	ENSG00000137868	74471807	74504608	ENSP00000410221	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
11	15	74471852	A	G	ENST00000545137	ENSG00000137868	74471807	74504608	-	STRA6	-1	-	c.2282T>C	p.M761T	non-syn	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
12	15	74471852	A	G	ENST00000545137	ENSG00000137868	74471807	74504608	-	STRA6	-1	-	c.2282T>C	p.M761T	non-syn	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
13	15	74471852	A	G	ENST00000574439	ENSG00000137868	74471807	74504608	-	STRA6	-1	-	c.2845T>C	p.*949R	non-syn	rs78299262	0.07	-	lod=23:304	-	-	-	het	9
14	15	74471852	A	G	ENST00000574439	ENSG00000137868	74471807	74504608	-	STRA6	-1	-	c.2845T>C	p.*949R	non-syn	rs78299262	0.07	-	lod=23:304	-	-	-	hom	1
15	15	74471932	A	G	ENST00000323940	ENSG00000137868	74471807	74504608	ENSP00000326085	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs75117524	0.0873	-	-	-	-	-	hom	1
16	15	74471932	A	G	ENST00000323940	ENSG00000137868	74471807	74504608	ENSP00000326085	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs75117524	0.0873	-	-	-	-	-	het	9
17	15	74471932	A	G	ENST00000395105	ENSG00000137868	74471807	74504608	ENSP00000378537	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs75117524	0.0873	-	-	-	-	-	hom	1
18	15	74471932	A	G	ENST00000395105	ENSG00000137868	74471807	74504608	ENSP00000378537	STRA6	-1	STRA6_HUMAN	-	-	3'_UTR	rs75117524	0.0873	-	-	-	-	-	het	9
19	15	74471932	A	G	ENST00000416286	ENSG00000137868	74471807	74504608	ENSP00000400403	STRA6	-1	-	-	-	3'_UTR	rs75117524	0.0873	-	-	-	-	-	hom	1
20	15	74471932	A	G	ENST00000416286	ENSG00000137868	74471807	74504608	ENSP00000400403	STRA6	-1	-	-	-	3'_UTR	rs75117524	0.0873	-	-	-	-	-	het	9

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Transcripts and variants in the surrounding STRA6 15:74471807..74504608 region Gbrowse