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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 CNGB3:

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
ENSG00000170289	CNGB3	0	0	23	ENSG00000170289	ENST00000517327	ENSP00000428329	cyclic nucleotide gated channel beta 3 [Source:HGNC Symbol;Acc:2153]	8	87566205	87755903	-1	q21.3	87566205	87591434	CNGB3	CNGB3-003	HGNC Symbol	HGNC transcript name	3	38.24	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	54714	2153	CNGB3		27523

MSeqDR Master Exome Data Set M1: 85 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	87581566	A	G	ENST00000517327	ENSG00000170289	87566205	87755903	ENSP00000428329	CNGB3	-1	-	c.326T>C	p.L109P	non-syn	rs73269535	0.0955	-	-	-	-	-	het	18
2	8	87586393	G	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs990192	0.68508	-	-	-	-	-	het	314
3	8	87586393	G	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs990192	0.68508	-	-	-	-	-	hom	276
4	8	87586394	C	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs28471019	0.1327	-	-	-	-	-	het	87
5	8	87586394	C	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs28471019	0.1327	-	-	-	-	-	hom	6
6	8	87586555	A	C	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs149173480	0.0058	-	-	-	-	-	het	1
7	8	87586573	G	A	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs192543896	0.0028	-	-	-	-	-	het	7
8	8	87586729	C	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs17683284	0.0765	-	-	-	-	-	hom	3
9	8	87586729	C	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs17683284	0.0765	-	-	-	-	-	het	116
10	8	87586849	A	G	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs78927155	0.0109	-	-	-	-	-	het	3
11	8	87586908	T	G	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs77776334	0.0099	-	-	-	-	-	het	3
12	8	87587121	C	-AT	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs3217489	-	-	lod=28:325	-	-	-	het	79
13	8	87587121	C	-AT	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs3217489	-	-	lod=28:325	-	-	-	hom	7
14	8	87587254	A	G	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs16915859	0.0394	-	-	-	-	-	het	1
15	8	87587280	A	C	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	8	87587297	T	C	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs73269601	0.102	-	-	-	-	-	het	12
17	8	87587411	C	T	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs116835980	0.0173	-	-	-	-	-	het	3
18	8	87587643	T	G	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs16915861	0.0437	-	-	-	-	-	het	1
19	8	87587653	A	C	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs188787381	0.00094	-	-	-	-	-	het	4
20	8	87587907	C	G	ENST00000320005	ENSG00000170289	87566205	87755903	ENSP00000316605	CNGB3	-1	CNGB3_HUMAN	-	-	3'_UTR	rs186370374	0.00091	-	-	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CNGB3 8:87566205..87755903 region Gbrowse