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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 B3GAT3:

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
ENSG00000149541	B3GAT3	0	0	1	ENSG00000149541	ENST00000265471	ENSP00000265471	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) [Source:HGNC Symbol;Acc:923]	11	62382768	62389647	-1	q12.3	62382768	62389647	B3GAT3	B3GAT3-001	HGNC Symbol	HGNC transcript name	6	53.95	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	26229	923	B3GAT3	NM_012200	27504

MSeqDR Master Exome Data Set M1: 110 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	11	62382889	C	T	ENST00000265471	ENSG00000149541	62382768	62389647	ENSP00000265471	B3GAT3	-1	B3GA3_HUMAN	-	-	3'_UTR	rs149143854	0.00992	-	-	-	-	-	het	20
2	11	62382889	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	rs149143854	0.00992	-	-	-	-	-	het	20
3	11	62383201	C	T	ENST00000265471	ENSG00000149541	62382768	62389647	ENSP00000265471	B3GAT3	-1	B3GA3_HUMAN	c.980G>A	p.R327Q	non-syn	NA	-	-	lod=326:588	TOLERATED	B	-	het	1
4	11	62383201	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	lod=326:588	TOLERATED	B	-	het	1
5	11	62383201	C	T	ENST00000532585	ENSG00000149541	62382768	62389647	ENSP00000432604	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	lod=326:588	TOLERATED	B	-	het	1
6	11	62383202	G	A	ENST00000265471	ENSG00000149541	62382768	62389647	ENSP00000265471	B3GAT3	-1	B3GA3_HUMAN	c.979C>T	p.R327W	non-syn	rs200511074	-	A=2/G=8596;A=0/G=4404;A=2/G=13000	lod=326:588	DAMAGING	B	-	het	1
7	11	62383202	G	A	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	rs200511074	-	A=2/G=8596;A=0/G=4404;A=2/G=13000	lod=326:588	DAMAGING	B	-	het	1
8	11	62383202	G	A	ENST00000532585	ENSG00000149541	62382768	62389647	ENSP00000432604	B3GAT3	-1	-	-	-	3'_UTR	rs200511074	-	A=2/G=8596;A=0/G=4404;A=2/G=13000	lod=326:588	DAMAGING	B	-	het	1
9	11	62383210	C	T	ENST00000265471	ENSG00000149541	62382768	62389647	ENSP00000265471	B3GAT3	-1	B3GA3_HUMAN	c.971G>A	p.R324Q	non-syn	NA	-	T=1/C=8597;T=0/C=4404;T=1/C=13001	lod=326:588	TOLERATED	NA	-	het	1
10	11	62383210	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	T=1/C=8597;T=0/C=4404;T=1/C=13001	lod=326:588	TOLERATED	NA	-	het	1
11	11	62383210	C	T	ENST00000532585	ENSG00000149541	62382768	62389647	ENSP00000432604	B3GAT3	-1	-	-	-	3'_UTR	NA	-	T=1/C=8597;T=0/C=4404;T=1/C=13001	lod=326:588	TOLERATED	NA	-	het	1
12	11	62383251	C	T	ENST00000265471	ENSG00000149541	62382768	62389647	ENSP00000265471	B3GAT3	-1	B3GA3_HUMAN	c.930G>A	p.R310R	syn	rs147883248	0.0022	T=22/C=8576;T=1/C=4403;T=23/C=12979	lod=326:588	-	-	-	het	2
13	11	62383251	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	rs147883248	0.0022	T=22/C=8576;T=1/C=4403;T=23/C=12979	lod=326:588	-	-	-	het	2
14	11	62383251	C	T	ENST00000532585	ENSG00000149541	62382768	62389647	ENSP00000432604	B3GAT3	-1	-	-	-	3'_UTR	rs147883248	0.0022	T=22/C=8576;T=1/C=4403;T=23/C=12979	lod=326:588	-	-	-	het	2
15	11	62383301	G	A	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	11	62383331	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
17	11	62383355	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
18	11	62383443	G	A	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
19	11	62383444	C	+G	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	11	62383462	C	T	ENST00000531383	ENSG00000149541	62382768	62389647	ENSP00000431359	B3GAT3	-1	-	-	-	3'_UTR	rs111587618	0.0584	-	-	-	-	-	het	4

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Transcripts and variants in the surrounding B3GAT3 11:62382768..62389647 region Gbrowse