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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 ENSG00000115840:

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
ENSG00000115840	SLC25A12	1	34	2	ENSG00000115840	ENST00000422440	ENSP00000388658	solute carrier family 25 (aspartate/glutamate carrier), member 12 [Source:HGNC Symbol;Acc:10982]	2	172640880	172864766	-1	q31.1	172640880	172750762	SLC25A12	SLC25A12-001	HGNC Symbol	HGNC transcript name	11	40.25	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8604	10982	SLC25A12	NM_003705	27508

MSeqDR Master Exome Data Set M1: 122 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	172641045	C	G	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs11757	0.25139	-	-	-	-	-	het	241
2	2	172641045	C	G	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs11757	0.25139	-	-	-	-	-	hom	44
3	2	172641053	C	T	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=17:272	-	-	-	het	4
4	2	172641090	C	T	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs113965617	0.00181	-	lod=17:272	-	-	-	het	2
5	2	172641619	G	A	ENST00000263812	ENSG00000115840	172640880	172864766	ENSP00000263812	SLC25A12	-1	-	-	-	3'_UTR	rs113403751	0.01081	-	lod=130:489	-	-	-	het	11
6	2	172641619	G	A	ENST00000392592	ENSG00000115840	172640880	172864766	ENSP00000376371	SLC25A12	-1	-	-	-	3'_UTR	rs113403751	0.01081	-	lod=130:489	-	-	-	het	11
7	2	172641619	G	A	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs113403751	0.01081	-	lod=130:489	-	-	-	het	11
8	2	172641619	G	A	ENST00000472070	ENSG00000115840	172640880	172864766	-	SLC25A12	-1	-	c.1612C>T	p.P538S	non-syn	rs113403751	0.01081	-	lod=130:489	-	-	-	het	11
9	2	172641660	C	T	ENST00000263812	ENSG00000115840	172640880	172864766	ENSP00000263812	SLC25A12	-1	-	-	-	3'_UTR	rs13035825	0.01892	-	lod=130:489	-	-	-	het	45
10	2	172641660	C	T	ENST00000263812	ENSG00000115840	172640880	172864766	ENSP00000263812	SLC25A12	-1	-	-	-	3'_UTR	rs13035825	0.01892	-	lod=130:489	-	-	-	hom	2
11	2	172641660	C	T	ENST00000392592	ENSG00000115840	172640880	172864766	ENSP00000376371	SLC25A12	-1	-	-	-	3'_UTR	rs13035825	0.01892	-	lod=130:489	-	-	-	het	45
12	2	172641660	C	T	ENST00000392592	ENSG00000115840	172640880	172864766	ENSP00000376371	SLC25A12	-1	-	-	-	3'_UTR	rs13035825	0.01892	-	lod=130:489	-	-	-	hom	2
13	2	172641660	C	T	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs13035825	0.01892	-	lod=130:489	-	-	-	het	45
14	2	172641660	C	T	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs13035825	0.01892	-	lod=130:489	-	-	-	hom	2
15	2	172641660	C	T	ENST00000472070	ENSG00000115840	172640880	172864766	-	SLC25A12	-1	-	c.1571G>A	p.C524Y	non-syn	rs13035825	0.01892	-	lod=130:489	-	-	-	het	45
16	2	172641660	C	T	ENST00000472070	ENSG00000115840	172640880	172864766	-	SLC25A12	-1	-	c.1571G>A	p.C524Y	non-syn	rs13035825	0.01892	-	lod=130:489	-	-	-	hom	2
17	2	172641759	T	A	ENST00000263812	ENSG00000115840	172640880	172864766	ENSP00000263812	SLC25A12	-1	-	-	-	3'_UTR	rs200445677	-	-	-	-	-	-	het	3
18	2	172641759	T	A	ENST00000392592	ENSG00000115840	172640880	172864766	ENSP00000376371	SLC25A12	-1	-	-	-	3'_UTR	rs200445677	-	-	-	-	-	-	het	3
19	2	172641759	T	A	ENST00000422440	ENSG00000115840	172640880	172864766	ENSP00000388658	SLC25A12	-1	CMC1_HUMAN	-	-	3'_UTR	rs200445677	-	-	-	-	-	-	het	3
20	2	172641759	T	A	ENST00000472070	ENSG00000115840	172640880	172864766	-	SLC25A12	-1	-	c.1472A>T	p.K491I	non-syn	rs200445677	-	-	-	-	-	-	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 SLC25A12 2:172640880..172864766 region Gbrowse