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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 SLC12A3:

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
ENSG00000070915	SLC12A3	1	0	21	ENSG00000070915	ENST00000566786	ENSP00000457552	solute carrier family 12 (sodium/chloride transporter), member 3 [Source:HGNC Symbol;Acc:10912]	16	56899119	56949762	1	q13	56899119	56947317	SLC12A3	SLC12A3-002	HGNC Symbol	HGNC transcript name	6	52.83	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6559	10912	SLC12A3		27514

MSeqDR Master Exome Data Set M1: 413 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	16	56899183	C	T	ENST00000262502	ENSG00000070915	56899119	56949762	ENSP00000262502	SLC12A3	1	-	c.36C>T	p.D12D	syn	rs117987946	0.0011	T=19/C=8581;T=1/C=4395;T=20/C=12976	-	-	-	-	het	2
2	16	56899183	C	T	ENST00000438926	ENSG00000070915	56899119	56949762	ENSP00000402152	SLC12A3	1	S12A3_HUMAN	c.36C>T	p.D12D	syn	rs117987946	0.0011	T=19/C=8581;T=1/C=4395;T=20/C=12976	-	-	-	-	het	2
3	16	56899183	C	T	ENST00000563236	ENSG00000070915	56899119	56949762	ENSP00000456149	SLC12A3	1	S12A3_HUMAN	c.36C>T	p.D12D	syn	rs117987946	0.0011	T=19/C=8581;T=1/C=4395;T=20/C=12976	-	-	-	-	het	2
4	16	56899183	C	T	ENST00000566786	ENSG00000070915	56899119	56949762	ENSP00000457552	SLC12A3	1	S12A3_HUMAN	c.36C>T	p.D12D	syn	rs117987946	0.0011	T=19/C=8581;T=1/C=4395;T=20/C=12976	-	-	-	-	het	2
5	16	56899184	G	C	ENST00000262502	ENSG00000070915	56899119	56949762	ENSP00000262502	SLC12A3	1	-	c.37G>C	p.A13P	non-syn	rs147200024	0.0011	C=12/G=8588;C=1/G=4395;C=13/G=12983	-	TOLERATED	B	-	het	3
6	16	56899184	G	C	ENST00000438926	ENSG00000070915	56899119	56949762	ENSP00000402152	SLC12A3	1	S12A3_HUMAN	c.37G>C	p.A13P	non-syn	rs147200024	0.0011	C=12/G=8588;C=1/G=4395;C=13/G=12983	-	TOLERATED	B	-	het	3
7	16	56899184	G	C	ENST00000563236	ENSG00000070915	56899119	56949762	ENSP00000456149	SLC12A3	1	S12A3_HUMAN	c.37G>C	p.A13P	non-syn	rs147200024	0.0011	C=12/G=8588;C=1/G=4395;C=13/G=12983	-	TOLERATED	B	-	het	3
8	16	56899184	G	C	ENST00000566786	ENSG00000070915	56899119	56949762	ENSP00000457552	SLC12A3	1	S12A3_HUMAN	c.37G>C	p.A13P	non-syn	rs147200024	0.0011	C=12/G=8588;C=1/G=4395;C=13/G=12983	-	TOLERATED	B	-	het	3
9	16	56899228	C	G	ENST00000262502	ENSG00000070915	56899119	56949762	ENSP00000262502	SLC12A3	1	-	c.81C>G	p.S27R	non-syn	rs201850644	-	G=1/C=8599;G=0/C=4396;G=1/C=12995	-	TOLERATED	B	-	het	2
10	16	56899228	C	G	ENST00000438926	ENSG00000070915	56899119	56949762	ENSP00000402152	SLC12A3	1	S12A3_HUMAN	c.81C>G	p.S27R	non-syn	rs201850644	-	G=1/C=8599;G=0/C=4396;G=1/C=12995	-	TOLERATED	B	-	het	2
11	16	56899228	C	G	ENST00000563236	ENSG00000070915	56899119	56949762	ENSP00000456149	SLC12A3	1	S12A3_HUMAN	c.81C>G	p.S27R	non-syn	rs201850644	-	G=1/C=8599;G=0/C=4396;G=1/C=12995	-	TOLERATED	B	-	het	2
12	16	56899228	C	G	ENST00000566786	ENSG00000070915	56899119	56949762	ENSP00000457552	SLC12A3	1	S12A3_HUMAN	c.81C>G	p.S27R	non-syn	rs201850644	-	G=1/C=8599;G=0/C=4396;G=1/C=12995	-	TOLERATED	B	-	het	2
13	16	56899240	C	T	ENST00000262502	ENSG00000070915	56899119	56949762	ENSP00000262502	SLC12A3	1	-	c.93C>T	p.P31P	syn	rs34055681	-	T=0/C=8600;T=18/C=4378;T=18/C=12978	-	-	-	-	het	1
14	16	56899240	C	T	ENST00000438926	ENSG00000070915	56899119	56949762	ENSP00000402152	SLC12A3	1	S12A3_HUMAN	c.93C>T	p.P31P	syn	rs34055681	-	T=0/C=8600;T=18/C=4378;T=18/C=12978	-	-	-	-	het	1
15	16	56899240	C	T	ENST00000563236	ENSG00000070915	56899119	56949762	ENSP00000456149	SLC12A3	1	S12A3_HUMAN	c.93C>T	p.P31P	syn	rs34055681	-	T=0/C=8600;T=18/C=4378;T=18/C=12978	-	-	-	-	het	1
16	16	56899240	C	T	ENST00000566786	ENSG00000070915	56899119	56949762	ENSP00000457552	SLC12A3	1	S12A3_HUMAN	c.93C>T	p.P31P	syn	rs34055681	-	T=0/C=8600;T=18/C=4378;T=18/C=12978	-	-	-	-	het	1
17	16	56899396	G	T	ENST00000262502	ENSG00000070915	56899119	56949762	ENSP00000262502	SLC12A3	1	-	c.249G>T	p.R83R	syn	rs76750525	0.00595	T=42/G=8558;T=1/G=4395;T=43/G=12953	lod=76:432	-	-	-	het	9
18	16	56899396	G	T	ENST00000438926	ENSG00000070915	56899119	56949762	ENSP00000402152	SLC12A3	1	S12A3_HUMAN	c.249G>T	p.R83R	syn	rs76750525	0.00595	T=42/G=8558;T=1/G=4395;T=43/G=12953	lod=76:432	-	-	-	het	9
19	16	56899396	G	T	ENST00000563236	ENSG00000070915	56899119	56949762	ENSP00000456149	SLC12A3	1	S12A3_HUMAN	c.249G>T	p.R83R	syn	rs76750525	0.00595	T=42/G=8558;T=1/G=4395;T=43/G=12953	lod=76:432	-	-	-	het	9
20	16	56899396	G	T	ENST00000566786	ENSG00000070915	56899119	56949762	ENSP00000457552	SLC12A3	1	S12A3_HUMAN	c.249G>T	p.R83R	syn	rs76750525	0.00595	T=42/G=8558;T=1/G=4395;T=43/G=12953	lod=76:432	-	-	-	het	9

** 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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Transcripts and variants in the surrounding SLC12A3 16:56899119..56949762 region Gbrowse