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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 ANO3:

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
ENSG00000134343	ANO3	0	0	3	ENSG00000134343	ENST00000525139	ENSP00000432576	anoctamin 3 [Source:HGNC Symbol;Acc:14004]	11	26210829	26684835	1	p14.2	26331146	26682227	ANO3	ANO3-006	HGNC Symbol	HGNC transcript name	6	36.39	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	63982	14004	ANO3		27504

MSeqDR Master Exome Data Set M1: 283 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	26353018	C	T	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs78569528	0.0022	-	-	-	-	-	het	1
2	11	26353121	C	T	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs7117246	0.49167	-	-	-	-	-	het	325
3	11	26353121	C	T	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs7117246	0.49167	-	-	-	-	-	hom	119
4	11	26353191	C	-AGA	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs150448041	-	-	-	-	-	-	het	4
5	11	26353437	C	G	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs16915482	0.1232	-	-	-	-	-	hom	2
6	11	26353437	C	G	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs16915482	0.1232	-	-	-	-	-	het	10
7	11	26353455	G	C	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	11	26353490	A	G	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	11	26353561	T	C	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs1531395	0.9963	-	lod=30:333	-	-	-	het	3
10	11	26353561	T	C	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs1531395	0.9963	-	lod=30:333	-	-	-	hom	686
11	11	26353584	C	A	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs138455493	0.0133	-	-	-	-	-	het	8
12	11	26353643	T	A	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs1531394	0.4927	-	lod=40:363	-	-	-	het	389
13	11	26353643	T	A	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	rs1531394	0.4927	-	lod=40:363	-	-	-	hom	147
14	11	26353671	T	G	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
15	11	26353671	T	G	ENST00000531646	ENSG00000134343	26210829	26684835	ENSP00000435275	ANO3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	11	26353704	T	G	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	NA	-	-	lod=87:446	-	-	-	het	1
17	11	26353704	T	G	ENST00000531646	ENSG00000134343	26210829	26684835	ENSP00000435275	ANO3	1	-	-	-	5'_UTR	NA	-	-	lod=87:446	-	-	-	het	1
18	11	26353717	T	C	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
19	11	26353717	T	C	ENST00000531646	ENSG00000134343	26210829	26684835	ENSP00000435275	ANO3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
20	11	26353735	G	C	ENST00000256737	ENSG00000134343	26210829	26684835	ENSP00000256737	ANO3	1	ANO3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ANO3 11:26210829..26684835 region Gbrowse