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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 SPG20:

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
ENSG00000133104	SPG20	1	0	7	ENSG00000133104	ENST00000438666	ENSP00000406061	spastic paraplegia 20 (Troyer syndrome) [Source:HGNC Symbol;Acc:18514]	13	36875775	36944317	-1	q13.3	36875775	36920420	SPG20	SPG20-002	HGNC Symbol	HGNC transcript name	11	39.04	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23111	18514	SPG20	NM_015087	27513

MSeqDR Master Exome Data Set M1: 232 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	13	36876048	T	A	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs74868982	0.00364	-	-	-	-	-	het	4
2	13	36876048	T	A	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs74868982	0.00364	-	-	-	-	-	het	4
3	13	36876048	T	A	ENST00000451493	ENSG00000133104	36875775	36944317	ENSP00000414147	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs74868982	0.00364	-	-	-	-	-	het	4
4	13	36876154	A	-C	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs150152867	-	-	-	-	-	-	het	5
5	13	36876154	A	-C	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs150152867	-	-	-	-	-	-	het	5
6	13	36876154	A	-C	ENST00000451493	ENSG00000133104	36875775	36944317	ENSP00000414147	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs150152867	-	-	-	-	-	-	het	5
7	13	36876159	A	G	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs34434389	0.10662	-	-	-	-	-	het	91
8	13	36876159	A	G	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs34434389	0.10662	-	-	-	-	-	hom	2
9	13	36876159	A	G	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs34434389	0.10662	-	-	-	-	-	het	91
10	13	36876159	A	G	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs34434389	0.10662	-	-	-	-	-	hom	2
11	13	36876159	A	G	ENST00000451493	ENSG00000133104	36875775	36944317	ENSP00000414147	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs34434389	0.10662	-	-	-	-	-	het	91
12	13	36876159	A	G	ENST00000451493	ENSG00000133104	36875775	36944317	ENSP00000414147	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs34434389	0.10662	-	-	-	-	-	hom	2
13	13	36876203	A	G	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	13	36876203	A	G	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	13	36876203	A	G	ENST00000451493	ENSG00000133104	36875775	36944317	ENSP00000414147	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	13	36876371	T	-TATC	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs66535666	-	-	-	-	-	-	het	274
17	13	36876371	T	-TATC	ENST00000355182	ENSG00000133104	36875775	36944317	ENSP00000347314	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs66535666	-	-	-	-	-	-	hom	16
18	13	36876371	T	-TATC	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs66535666	-	-	-	-	-	-	het	274
19	13	36876371	T	-TATC	ENST00000438666	ENSG00000133104	36875775	36944317	ENSP00000406061	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs66535666	-	-	-	-	-	-	hom	16
20	13	36876371	T	-TATC	ENST00000451493	ENSG00000133104	36875775	36944317	ENSP00000414147	SPG20	-1	SPG20_HUMAN	-	-	3'_UTR	rs66535666	-	-	-	-	-	-	het	274

** 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 SPG20 13:36875775..36944317 region Gbrowse