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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 SLC4A1:

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
ENSG00000004939	SLC4A1	0	0	38	ENSG00000004939	ENST00000262418	ENSP00000262418	solute carrier family 4 (anion exchanger), member 1 (Diego blood group) [Source:HGNC Symbol;Acc:11027]	17	42325753	42345509	-1	q21.31	42325753	42345509	SLC4A1	SLC4A1-001	HGNC Symbol	HGNC transcript name	4	55.8	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6521	11027	SLC4A1	NM_000342	27509

MSeqDR Master Exome Data Set M1: 146 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	17	42325893	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	17	42325938	G	A	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	17	42326014	T	C	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs184368107	0.0015	-	-	-	-	-	het	1
4	17	42326034	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs143785442	0.0028	-	-	-	-	-	het	5
5	17	42326105	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs62078947	0.04126	-	-	-	-	-	het	43
6	17	42326216	C	-GT	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
7	17	42326217	G	+T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
8	17	42326217	G	-TT	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
9	17	42326243	T	-TTGA	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
10	17	42326258	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs5033	0.629	-	-	-	-	-	het	135
11	17	42326258	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs5033	0.629	-	-	-	-	-	hom	177
12	17	42326468	G	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	17	42326599	T	G	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs141425539	0.002	-	lod=65:415	-	-	-	het	2
14	17	42326722	A	-T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs5031	-	-	-	-	-	-	het	13
15	17	42326722	A	-T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs5031	-	-	-	-	-	-	hom	1
16	17	42326851	C	+A	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs147995414	-	-	-	-	-	-	het	3
17	17	42326879	G	C	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	17	42326886	G	-C	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	17	42326929	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs5030	0.0587	-	-	-	-	-	hom	2
20	17	42326929	C	T	ENST00000262418	ENSG00000004939	42325753	42345509	ENSP00000262418	SLC4A1	-1	B3AT_HUMAN	-	-	3'_UTR	rs5030	0.0587	-	-	-	-	-	het	21

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SLC4A1 17:42325753..42345509 region Gbrowse