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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 SLC25A13:

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
ENSG00000004864	SLC25A13	1	54	21	ENSG00000004864	ENST00000265631	ENSP00000265631	solute carrier family 25 (aspartate/glutamate carrier), member 13 [Source:HGNC Symbol;Acc:10983]	7	95749532	95951459	-1	q21.3	95749532	95951405	SLC25A13	SLC25A13-001	HGNC Symbol	HGNC transcript name	9	39.76	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10165	10983	SLC25A13		27506

MSeqDR Master Exome Data Set M1: 128 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	7	95749711	G	A	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	7	95749711	G	A	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	7	95749730	T	C	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	7	95749730	T	C	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	7	95749818	G	-CTACAT	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	14
6	7	95749818	G	-CTACAT	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	14
7	7	95749881	G	A	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	7	95749881	G	A	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
9	7	95749881	G	A	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	7	95749881	G	A	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
11	7	95750022	G	A	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	rs182837763	0.0014	-	lod=16:265	-	-	-	het	1
12	7	95750022	G	A	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	rs182837763	0.0014	-	lod=16:265	-	-	-	het	1
13	7	95750328	T	C	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	rs144877897	0.0257	-	lod=44:374	-	-	-	het	5
14	7	95750328	T	C	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	rs144877897	0.0257	-	lod=44:374	-	-	-	het	5
15	7	95750328	T	C	ENST00000494085	ENSG00000004864	95749532	95951459	-	SLC25A13	-1	-	c.706A>G	p.I236V	non-syn	rs144877897	0.0257	-	lod=44:374	-	-	-	het	5
16	7	95750328	T	C	ENST00000542654	ENSG00000004864	95749532	95951459	ENSP00000440484	SLC25A13	-1	-	-	-	3'_UTR	rs144877897	0.0257	-	lod=44:374	-	-	-	het	5
17	7	95750360	T	C	ENST00000265631	ENSG00000004864	95749532	95951459	ENSP00000265631	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	2
18	7	95750360	T	C	ENST00000416240	ENSG00000004864	95749532	95951459	ENSP00000400101	SLC25A13	-1	CMC2_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	2
19	7	95750360	T	C	ENST00000494085	ENSG00000004864	95749532	95951459	-	SLC25A13	-1	-	c.674A>G	p.H225R	non-syn	NA	-	-	lod=16:265	-	-	-	het	2
20	7	95750360	T	C	ENST00000542654	ENSG00000004864	95749532	95951459	ENSP00000440484	SLC25A13	-1	-	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	2

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Transcripts and variants in the surrounding SLC25A13 7:95749532..95951459 region Gbrowse