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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 SLC52A2:

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
ENSG00000185803	SLC52A2	0	0	16	ENSG00000185803	ENST00000532815		solute carrier family 52 (riboflavin transporter), member 2 [Source:HGNC Symbol;Acc:30224]	8	145577795	145584932	1	q24.3	145578304	145582957	SLC52A2	SLC52A2-006	HGNC Symbol	HGNC transcript name	14	65.94	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	79581	30224	SLC52A2		27523
ENSG00000261042	SLC52A2	0	0	16	ENSG00000261042	ENST00000565673	ENSP00000454983	solute carrier family 52 (riboflavin transporter), member 2 [Source:HGNC Symbol;Acc:30224]	HG243_PATCH	145409038	145416175	1	q24.3	145409038	145414603	SLC52A2	SLC52A2-010	HGNC Symbol	HGNC transcript name	12	65.97	protein_coding	protein_coding	havana	havana	KNOWN	NOVEL	79581	30224	SLC52A2		1000057004

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MSeqDR Master Exome Data Set M1: 257 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	8	145577824	C	G	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	rs880701	0.5819	-	-	-	-	-	het	398
2	8	145577824	C	G	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	rs880701	0.5819	-	-	-	-	-	hom	155
3	8	145577829	A	C	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	rs880702	0.6152	-	-	-	-	-	hom	155
4	8	145577829	A	C	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	rs880702	0.6152	-	-	-	-	-	het	405
5	8	145577845	G	A	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	8	145577899	C	T	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	rs116055973	0.0363	-	-	TOLERATED	-	-	het	15
7	8	145577921	C	T	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
8	8	145577931	C	-TGA	ENST00000524541	ENSG00000185803	145577795	145584932	ENSP00000434239	SLC52A2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	8	145578358	C	T	ENST00000532815	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	-	-	+8bp 5'_splice_site	NA	-	-	-	DAMAGING	-	-	het	1
10	8	145580984	A	G	ENST00000532815	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.121A>G	p.S41G	non-syn	rs2272666	0.6115	-	-	-	-	-	hom	91
11	8	145580984	A	G	ENST00000532815	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.121A>G	p.S41G	non-syn	rs2272666	0.6115	-	-	-	-	-	het	155
12	8	145581005	G	T	ENST00000532815	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.142G>T	p.A48S	non-syn	rs115001185	0.0508	-	-	-	-	-	het	12
13	8	145581024	C	T	ENST00000532815	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.161C>T	p.A54V	non-syn	rs116687799	0.0486	-	-	-	-	-	het	12
14	8	145582740	A	G	ENST00000526779	ENSG00000185803	145577795	145584932	ENSP00000436917	SLC52A2	1	-	-	-	+15bp 5'_splice_site	rs114304511	0.0449	-	-	-	-	-	het	13
15	8	145582740	A	G	ENST00000526891	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	-	-	+15bp 5'_splice_site	rs114304511	0.0449	-	-	-	-	-	het	13
16	8	145582740	A	G	ENST00000532887	ENSG00000185803	145577795	145584932	ENSP00000436768	SLC52A2	1	S52A2_HUMAN	-	-	+15bp 5'_splice_site	rs114304511	0.0449	-	-	-	-	-	het	13
17	8	145582740	A	G	ENST00000533662	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.486A>G	p.Q162Q	syn	rs114304511	0.0449	-	-	-	-	-	het	13
18	8	145582740	A	G	ENST00000540505	ENSG00000185803	145577795	145584932	ENSP00000440400	SLC52A2	1	-	-	-	+15bp 5'_splice_site	rs114304511	0.0449	-	-	-	-	-	het	13
19	8	145582784	T	C	ENST00000533662	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.530T>C	p.L177P	non-syn	NA	-	-	-	-	-	-	het	3
20	8	145582809	C	G	ENST00000533662	ENSG00000185803	145577795	145584932	-	SLC52A2	1	-	c.555C>G	p.G185G	syn	rs115365198	0.0414	-	-	-	-	-	het	13

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SLC52A2 8:145577795..145584932 region Gbrowse