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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 ENSG00000116171:

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
ENSG00000116171	SCP2	1	0	0	ENSG00000116171	ENST00000473584		sterol carrier protein 2 [Source:HGNC Symbol;Acc:10606]	1	53392901	53517375	1	p32.3	53429313	53453752	SCP2	SCP2-003	HGNC Symbol	HGNC transcript name	16	40.01	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	6342	10606	SCP2		27511

MSeqDR Master Exome Data Set M1: 420 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	1	53392908	A	C	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	1	53392908	A	G	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs1242331	0.6176	-	-	-	-	-	hom	264
3	1	53392908	A	G	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs1242331	0.6176	-	-	-	-	-	het	219
4	1	53392914	C	T	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	1	53392989	A	T	ENST00000371509	ENSG00000116171	53392901	53517375	ENSP00000360564	SCP2	1	-	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	het	4
6	1	53392989	A	T	ENST00000371509	ENSG00000116171	53392901	53517375	ENSP00000360564	SCP2	1	-	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	hom	1
7	1	53392989	A	T	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	het	4
8	1	53392989	A	T	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	hom	1
9	1	53392989	A	T	ENST00000407246	ENSG00000116171	53392901	53517375	ENSP00000384569	SCP2	1	-	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	het	4
10	1	53392989	A	T	ENST00000407246	ENSG00000116171	53392901	53517375	ENSP00000384569	SCP2	1	-	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	hom	1
11	1	53392989	A	T	ENST00000478631	ENSG00000116171	53392901	53517375	ENSP00000435194	SCP2	1	-	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	het	4
12	1	53392989	A	T	ENST00000478631	ENSG00000116171	53392901	53517375	ENSP00000435194	SCP2	1	-	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	hom	1
13	1	53392989	A	T	ENST00000528311	ENSG00000116171	53392901	53517375	ENSP00000434132	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	het	4
14	1	53392989	A	T	ENST00000528311	ENSG00000116171	53392901	53517375	ENSP00000434132	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs115810571	0.0604	-	-	-	-	-	hom	1
15	1	53393012	C	T	ENST00000371509	ENSG00000116171	53392901	53517375	ENSP00000360564	SCP2	1	-	-	-	5'_UTR	rs140752743	0.056	-	-	-	-	-	het	9
16	1	53393012	C	T	ENST00000371513	ENSG00000116171	53392901	53517375	ENSP00000360568	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs140752743	0.056	-	-	-	-	-	het	9
17	1	53393012	C	T	ENST00000371514	ENSG00000116171	53392901	53517375	ENSP00000360569	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs140752743	0.056	-	-	-	-	-	het	9
18	1	53393012	C	T	ENST00000407246	ENSG00000116171	53392901	53517375	ENSP00000384569	SCP2	1	-	-	-	5'_UTR	rs140752743	0.056	-	-	-	-	-	het	9
19	1	53393012	C	T	ENST00000478631	ENSG00000116171	53392901	53517375	ENSP00000435194	SCP2	1	-	-	-	5'_UTR	rs140752743	0.056	-	-	-	-	-	het	9
20	1	53393012	C	T	ENST00000528311	ENSG00000116171	53392901	53517375	ENSP00000434132	SCP2	1	NLTP_HUMAN	-	-	5'_UTR	rs140752743	0.056	-	-	-	-	-	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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SCP2 1:53392901..53517375 region Gbrowse