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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 SLC7A7:

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
ENSG00000155465	SLC7A7	0	0	51	ENSG00000155465	ENST00000554758	ENSP00000450671	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 [Source:HGNC Symbol;Acc:11065]	14	23242431	23299029	-1	q11.2	23282114	23285085	SLC7A7	SLC7A7-018	HGNC Symbol	HGNC transcript name	21	47.24	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	9056	11065	SLC7A7		27520

MSeqDR Master Exome Data Set M1: 333 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	14	23242524	T	C	ENST00000285850	ENSG00000155465	23242431	23299029	ENSP00000285850	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	14	23242524	T	C	ENST00000397528	ENSG00000155465	23242431	23299029	ENSP00000380662	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	14	23242524	T	C	ENST00000397529	ENSG00000155465	23242431	23299029	ENSP00000380663	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	14	23242524	T	C	ENST00000397532	ENSG00000155465	23242431	23299029	ENSP00000380666	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	14	23242524	T	C	ENST00000555702	ENSG00000155465	23242431	23299029	ENSP00000451881	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	14	23242524	T	C	ENST00000556287	ENSG00000155465	23242431	23299029	ENSP00000450715	SLC7A7	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	14	23242547	G	A	ENST00000285850	ENSG00000155465	23242431	23299029	ENSP00000285850	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs143575981	0.00657	-	-	-	-	-	het	12
8	14	23242547	G	A	ENST00000397528	ENSG00000155465	23242431	23299029	ENSP00000380662	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs143575981	0.00657	-	-	-	-	-	het	12
9	14	23242547	G	A	ENST00000397529	ENSG00000155465	23242431	23299029	ENSP00000380663	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs143575981	0.00657	-	-	-	-	-	het	12
10	14	23242547	G	A	ENST00000397532	ENSG00000155465	23242431	23299029	ENSP00000380666	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs143575981	0.00657	-	-	-	-	-	het	12
11	14	23242547	G	A	ENST00000554061	ENSG00000155465	23242431	23299029	-	SLC7A7	-1	-	c.1479C>T	p.C493C	syn	rs143575981	0.00657	-	-	-	-	-	het	12
12	14	23242547	G	A	ENST00000555702	ENSG00000155465	23242431	23299029	ENSP00000451881	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs143575981	0.00657	-	-	-	-	-	het	12
13	14	23242547	G	A	ENST00000556287	ENSG00000155465	23242431	23299029	ENSP00000450715	SLC7A7	-1	-	-	-	3'_UTR	rs143575981	0.00657	-	-	-	-	-	het	12
14	14	23242565	A	G	ENST00000285850	ENSG00000155465	23242431	23299029	ENSP00000285850	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs147164177	0.0071	-	-	-	-	-	het	2
15	14	23242565	A	G	ENST00000397528	ENSG00000155465	23242431	23299029	ENSP00000380662	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs147164177	0.0071	-	-	-	-	-	het	2
16	14	23242565	A	G	ENST00000397529	ENSG00000155465	23242431	23299029	ENSP00000380663	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs147164177	0.0071	-	-	-	-	-	het	2
17	14	23242565	A	G	ENST00000397532	ENSG00000155465	23242431	23299029	ENSP00000380666	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs147164177	0.0071	-	-	-	-	-	het	2
18	14	23242565	A	G	ENST00000554061	ENSG00000155465	23242431	23299029	-	SLC7A7	-1	-	c.1461T>C	p.F487F	syn	rs147164177	0.0071	-	-	-	-	-	het	2
19	14	23242565	A	G	ENST00000555702	ENSG00000155465	23242431	23299029	ENSP00000451881	SLC7A7	-1	YLAT1_HUMAN	-	-	3'_UTR	rs147164177	0.0071	-	-	-	-	-	het	2
20	14	23242565	A	G	ENST00000556287	ENSG00000155465	23242431	23299029	ENSP00000450715	SLC7A7	-1	-	-	-	3'_UTR	rs147164177	0.0071	-	-	-	-	-	het	2

** 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 SLC7A7 14:23242431..23299029 region Gbrowse