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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 SLC20A2:

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
ENSG00000168575	SLC20A2	0	0	8	ENSG00000168575	ENST00000342228	ENSP00000340465	solute carrier family 20 (phosphate transporter), member 2 [Source:HGNC Symbol;Acc:10947]	8	42273993	42397069	-1	p11.21	42273993	42397069	SLC20A2	SLC20A2-001	HGNC Symbol	HGNC transcript name	14	44.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6575	10947	SLC20A2	NM_006749	27523

MSeqDR Master Exome Data Set M1: 133 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	42274074	A	-AT	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	lod=447:621	-	-	-	het	2
2	8	42274125	G	A	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	8	42274264	G	C	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs6841	0.4348	-	-	-	-	-	hom	6
4	8	42274264	G	C	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs6841	0.4348	-	-	-	-	-	het	91
5	8	42274329	T	G	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	8	42274337	G	C	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	8	42274395	G	A	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	8	42274751	C	A	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs1803657	0.2692	-	lod=16:265	-	-	-	het	24
9	8	42274751	C	A	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs1803657	0.2692	-	lod=16:265	-	-	-	hom	2
10	8	42274887	A	G	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs185564375	0.0028	-	-	-	-	-	het	1
11	8	42274912	T	C	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs190717111	0.00092	-	-	-	-	-	het	1
12	8	42274941	G	A	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs72643203	0.01487	-	lod=27:321	-	-	-	het	29
13	8	42274960	T	C	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs3763510	0.1264	-	lod=49:385	-	-	-	het	30
14	8	42274960	T	C	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs3763510	0.1264	-	lod=49:385	-	-	-	hom	2
15	8	42275052	T	-TAATATA	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	lod=88:448	-	-	-	het	1
16	8	42275052	T	-TAATATA	ENST00000520262	ENSG00000168575	42273993	42397069	ENSP00000429754	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	lod=88:448	-	-	-	het	1
17	8	42275058	T	G	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs145543019	0.00364	-	lod=88:448	-	-	-	het	7
18	8	42275058	T	G	ENST00000520262	ENSG00000168575	42273993	42397069	ENSP00000429754	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	rs145543019	0.00364	-	lod=88:448	-	-	-	het	7
19	8	42275075	C	T	ENST00000342228	ENSG00000168575	42273993	42397069	ENSP00000340465	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	8	42275075	C	T	ENST00000520262	ENSG00000168575	42273993	42397069	ENSP00000429754	SLC20A2	-1	S20A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SLC20A2 8:42273993..42397069 region Gbrowse