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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 RAX2:

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
ENSG00000173976	RAX2	0	0	9	ENSG00000173976	ENST00000555978	ENSP00000450687	retina and anterior neural fold homeobox 2 [Source:HGNC Symbol;Acc:18286]	19	3769087	3772233	-1	p13.3	3769087	3772209	RAX2	RAX2-003	HGNC Symbol	HGNC transcript name	2	64.32	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84839	18286	RAX2	NM_032753	27526

MSeqDR Master Exome Data Set M1: 49 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	19	3769253	G	C	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs6510769	0.3614	-	-	-	-	-	het	80
2	19	3769253	G	C	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs6510769	0.3614	-	-	-	-	-	hom	8
3	19	3769253	G	C	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs6510769	0.3614	-	-	-	-	-	het	80
4	19	3769253	G	C	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs6510769	0.3614	-	-	-	-	-	hom	8
5	19	3769470	G	A	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs1860322	0.1891	-	-	-	-	-	het	66
6	19	3769470	G	A	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs1860322	0.1891	-	-	-	-	-	hom	8
7	19	3769470	G	A	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs1860322	0.1891	-	-	-	-	-	het	66
8	19	3769470	G	A	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs1860322	0.1891	-	-	-	-	-	hom	8
9	19	3769753	G	A	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs917545	0.7771	-	-	-	-	-	het	67
10	19	3769753	G	A	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs917545	0.7771	-	-	-	-	-	hom	115
11	19	3769753	G	A	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs917545	0.7771	-	-	-	-	-	het	67
12	19	3769753	G	A	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs917545	0.7771	-	-	-	-	-	hom	115
13	19	3769834	C	T	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs917546	0.1871	-	-	-	-	-	het	72
14	19	3769834	C	T	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs917546	0.1871	-	-	-	-	-	hom	8
15	19	3769834	C	T	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs917546	0.1871	-	-	-	-	-	het	72
16	19	3769834	C	T	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs917546	0.1871	-	-	-	-	-	hom	8
17	19	3769899	C	T	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs917547	0.1705	-	-	-	-	-	het	65
18	19	3769899	C	T	ENST00000555633	ENSG00000173976	3769087	3772233	ENSP00000450456	RAX2	-1	-	-	-	3'_UTR	rs917547	0.1705	-	-	-	-	-	hom	8
19	19	3769899	C	T	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs917547	0.1705	-	-	-	-	-	het	65
20	19	3769899	C	T	ENST00000555978	ENSG00000173976	3769087	3772233	ENSP00000450687	RAX2	-1	RAX2_HUMAN	-	-	3'_UTR	rs917547	0.1705	-	-	-	-	-	hom	8

** 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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Transcripts and variants in the surrounding RAX2 19:3769087..3772233 region Gbrowse