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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 ENSG00000075415:

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
ENSG00000075415	SLC25A3	1	26	11	ENSG00000075415	ENST00000547534	ENSP00000449793	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 [Source:HGNC Symbol;Acc:10989]	12	98987369	98995946	1	q23.1	98987464	98991851	SLC25A3	SLC25A3-015	HGNC Symbol	HGNC transcript name	17	41.8	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	5250	10989	SLC25A3		27519

MSeqDR Master Exome Data Set M1: 187 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	12	98987445	G	A	ENST00000188376	ENSG00000075415	98987369	98995946	ENSP00000188376	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	hom	1
2	12	98987445	G	A	ENST00000188376	ENSG00000075415	98987369	98995946	ENSP00000188376	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	het	33
3	12	98987445	G	A	ENST00000228318	ENSG00000075415	98987369	98995946	ENSP00000228318	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	hom	1
4	12	98987445	G	A	ENST00000228318	ENSG00000075415	98987369	98995946	ENSP00000228318	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	het	33
5	12	98987445	G	A	ENST00000401722	ENSG00000075415	98987369	98995946	ENSP00000383898	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	hom	1
6	12	98987445	G	A	ENST00000401722	ENSG00000075415	98987369	98995946	ENSP00000383898	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	het	33
7	12	98987445	G	A	ENST00000546766	ENSG00000075415	98987369	98995946	-	SLC25A3	1	-	c.13G>A	p.D5N	non-syn	rs28372744	0.112	-	-	-	-	-	hom	1
8	12	98987445	G	A	ENST00000546766	ENSG00000075415	98987369	98995946	-	SLC25A3	1	-	c.13G>A	p.D5N	non-syn	rs28372744	0.112	-	-	-	-	-	het	33
9	12	98987445	G	A	ENST00000548046	ENSG00000075415	98987369	98995946	ENSP00000447339	SLC25A3	1	-	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	hom	1
10	12	98987445	G	A	ENST00000548046	ENSG00000075415	98987369	98995946	ENSP00000447339	SLC25A3	1	-	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	het	33
11	12	98987445	G	A	ENST00000551917	ENSG00000075415	98987369	98995946	ENSP00000447310	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	hom	1
12	12	98987445	G	A	ENST00000551917	ENSG00000075415	98987369	98995946	ENSP00000447310	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	het	33
13	12	98987445	G	A	ENST00000552981	ENSG00000075415	98987369	98995946	ENSP00000448708	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	hom	1
14	12	98987445	G	A	ENST00000552981	ENSG00000075415	98987369	98995946	ENSP00000448708	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	rs28372744	0.112	-	-	-	-	-	het	33
15	12	98987474	C	G	ENST00000188376	ENSG00000075415	98987369	98995946	ENSP00000188376	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
16	12	98987474	C	G	ENST00000228318	ENSG00000075415	98987369	98995946	ENSP00000228318	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
17	12	98987474	C	G	ENST00000401722	ENSG00000075415	98987369	98995946	ENSP00000383898	SLC25A3	1	MPCP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
18	12	98987474	C	G	ENST00000546766	ENSG00000075415	98987369	98995946	-	SLC25A3	1	-	c.42C>G	p.A14A	syn	NA	-	-	-	-	-	-	het	3
19	12	98987474	C	G	ENST00000547534	ENSG00000075415	98987369	98995946	ENSP00000449793	SLC25A3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
20	12	98987474	C	G	ENST00000548046	ENSG00000075415	98987369	98995946	ENSP00000447339	SLC25A3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding SLC25A3 12:98987369..98995946 region Gbrowse