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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 SLC4A11:

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
ENSG00000088836	SLC4A11	0	0	18	ENSG00000088836	ENST00000380056	ENSP00000369396	solute carrier family 4, sodium borate transporter, member 11 [Source:HGNC Symbol;Acc:16438]	20	3208063	3219836	-1	p13	3208063	3218373	SLC4A11	SLC4A11-002	HGNC Symbol	HGNC transcript name	7	61.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	83959	16438	SLC4A11	NM_032034	27522

MSeqDR Master Exome Data Set M1: 313 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	20	3208150	T	G	ENST00000380056	ENSG00000088836	3208063	3219836	ENSP00000369396	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	20	3208150	T	G	ENST00000380059	ENSG00000088836	3208063	3219836	ENSP00000369399	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	20	3208150	T	G	ENST00000474451	ENSG00000088836	3208063	3219836	-	SLC4A11	-1	-	c.3009A>C	p.R1003R	syn	NA	-	-	-	-	-	-	het	1
4	20	3208150	T	G	ENST00000539553	ENSG00000088836	3208063	3219836	ENSP00000441370	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	20	3208208	G	A	ENST00000380056	ENSG00000088836	3208063	3219836	ENSP00000369396	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs77978636	0.0269	-	-	-	-	-	het	3
6	20	3208208	G	A	ENST00000380059	ENSG00000088836	3208063	3219836	ENSP00000369399	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs77978636	0.0269	-	-	-	-	-	het	3
7	20	3208208	G	A	ENST00000474451	ENSG00000088836	3208063	3219836	-	SLC4A11	-1	-	c.2951C>T	p.A984V	non-syn	rs77978636	0.0269	-	-	-	-	-	het	3
8	20	3208208	G	A	ENST00000539553	ENSG00000088836	3208063	3219836	ENSP00000441370	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs77978636	0.0269	-	-	-	-	-	het	3
9	20	3208312	A	-GCCATGAGAAG	ENST00000380056	ENSG00000088836	3208063	3219836	ENSP00000369396	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	20	3208312	A	-GCCATGAGAAG	ENST00000380059	ENSG00000088836	3208063	3219836	ENSP00000369399	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	20	3208312	A	-GCCATGAGAAG	ENST00000474451	ENSG00000088836	3208063	3219836	-	SLC4A11	-1	-	c.2836_2846del	p.A949NA	non-syn	NA	-	-	-	-	-	-	het	2
12	20	3208312	A	-GCCATGAGAAG	ENST00000539553	ENSG00000088836	3208063	3219836	ENSP00000441370	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	20	3208324	G	A	ENST00000380056	ENSG00000088836	3208063	3219836	ENSP00000369396	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs143751993	0.0052	-	-	-	-	-	het	1
14	20	3208324	G	A	ENST00000380059	ENSG00000088836	3208063	3219836	ENSP00000369399	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs143751993	0.0052	-	-	-	-	-	het	1
15	20	3208324	G	A	ENST00000474451	ENSG00000088836	3208063	3219836	-	SLC4A11	-1	-	c.2835C>T	p.R945R	syn	rs143751993	0.0052	-	-	-	-	-	het	1
16	20	3208324	G	A	ENST00000539553	ENSG00000088836	3208063	3219836	ENSP00000441370	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs143751993	0.0052	-	-	-	-	-	het	1
17	20	3208399	G	A	ENST00000380056	ENSG00000088836	3208063	3219836	ENSP00000369396	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs6051657	0.2058	A=31/G=8567;A=924/G=3478;A=955/G=12045	-	-	-	-	het	18
18	20	3208399	G	A	ENST00000380059	ENSG00000088836	3208063	3219836	ENSP00000369399	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs6051657	0.2058	A=31/G=8567;A=924/G=3478;A=955/G=12045	-	-	-	-	het	18
19	20	3208399	G	A	ENST00000474451	ENSG00000088836	3208063	3219836	-	SLC4A11	-1	-	c.2760C>T	p.A920A	syn	rs6051657	0.2058	A=31/G=8567;A=924/G=3478;A=955/G=12045	-	-	-	-	het	18
20	20	3208399	G	A	ENST00000539553	ENSG00000088836	3208063	3219836	ENSP00000441370	SLC4A11	-1	S4A11_HUMAN	-	-	3'_UTR	rs6051657	0.2058	A=31/G=8567;A=924/G=3478;A=955/G=12045	-	-	-	-	het	18

** 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 SLC4A11 20:3208063..3219836 region Gbrowse