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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 SCN9A:

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
ENSG00000169432	SCN9A	0	0	16	ENSG00000169432	ENST00000409672	ENSP00000386306	sodium channel, voltage-gated, type IX, alpha subunit [Source:HGNC Symbol;Acc:10597]	2	167051695	167232503	-1	q24.3	167051695	167232503	SCN9A	SCN9A-001	HGNC Symbol	HGNC transcript name	7	34.44	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6335	10597	SCN9A	NM_002977	27508

MSeqDR Master Exome Data Set M1: 663 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	2	167051756	T	A	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	rs186838828	0.0041	-	lod=40:363	-	-	-	het	4
2	2	167051756	T	A	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	rs186838828	0.0041	-	lod=40:363	-	-	-	het	4
3	2	167051756	T	A	ENST00000409672	ENSG00000169432	167051695	167232503	ENSP00000386306	SCN9A	-1	SCN9A_HUMAN	-	-	3'_UTR	rs186838828	0.0041	-	lod=40:363	-	-	-	het	4
4	2	167051900	T	C	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	rs139483482	0.0058	-	-	-	-	-	het	2
5	2	167051900	T	C	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	rs139483482	0.0058	-	-	-	-	-	het	2
6	2	167051900	T	C	ENST00000409672	ENSG00000169432	167051695	167232503	ENSP00000386306	SCN9A	-1	SCN9A_HUMAN	-	-	3'_UTR	rs139483482	0.0058	-	-	-	-	-	het	2
7	2	167052113	C	-A	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	NA	-	-	lod=47:381	-	-	-	het	5
8	2	167052113	C	-A	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	NA	-	-	lod=47:381	-	-	-	het	5
9	2	167052113	C	-A	ENST00000409672	ENSG00000169432	167051695	167232503	ENSP00000386306	SCN9A	-1	SCN9A_HUMAN	-	-	3'_UTR	NA	-	-	lod=47:381	-	-	-	het	5
10	2	167052144	G	A	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	rs115766730	0.01015	-	-	-	-	-	het	16
11	2	167052144	G	A	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	rs115766730	0.01015	-	-	-	-	-	het	16
12	2	167052144	G	A	ENST00000409672	ENSG00000169432	167051695	167232503	ENSP00000386306	SCN9A	-1	SCN9A_HUMAN	-	-	3'_UTR	rs115766730	0.01015	-	-	-	-	-	het	16
13	2	167052255	G	A	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	rs200598248	-	-	-	-	-	-	het	5
14	2	167052255	G	A	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	rs200598248	-	-	-	-	-	-	het	5
15	2	167052255	G	A	ENST00000409672	ENSG00000169432	167051695	167232503	ENSP00000386306	SCN9A	-1	SCN9A_HUMAN	-	-	3'_UTR	rs200598248	-	-	-	-	-	-	het	5
16	2	167052328	A	G	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	rs73017538	0.1329	-	-	-	-	-	hom	7
17	2	167052328	A	G	ENST00000303354	ENSG00000169432	167051695	167232503	ENSP00000304748	SCN9A	-1	-	-	-	3'_UTR	rs73017538	0.1329	-	-	-	-	-	het	87
18	2	167052328	A	G	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	rs73017538	0.1329	-	-	-	-	-	hom	7
19	2	167052328	A	G	ENST00000375387	ENSG00000169432	167051695	167232503	ENSP00000364536	SCN9A	-1	-	-	-	3'_UTR	rs73017538	0.1329	-	-	-	-	-	het	87
20	2	167052328	A	G	ENST00000409672	ENSG00000169432	167051695	167232503	ENSP00000386306	SCN9A	-1	SCN9A_HUMAN	-	-	3'_UTR	rs73017538	0.1329	-	-	-	-	-	hom	7

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Transcripts and variants in the surrounding SCN9A 2:167051695..167232503 region Gbrowse