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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 SRD5A2:

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
ENSG00000049319	SRD5A2	0	0	55	ENSG00000049319	ENST00000405650		steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) [Source:HGNC Symbol;Acc:11285]	2	31747550	31806136	-1	p23.1	31747550	31806136	SRD5A2	SRD5A2-001	HGNC Symbol	HGNC transcript name	2	39.1	processed_transcript	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	6716	11285	SRD5A2		27508

MSeqDR Master Exome Data Set M1: 60 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	2	31751173	A	-CG	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.853_854del	p.R285NA	non-syn	rs10529926	-	-	-	-	-	-	het	2
2	2	31751173	A	-CG	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.1022_1023del	p.P341NA	non-syn	rs10529926	-	-	-	-	-	-	het	2
3	2	31751174	C	+ATATATATATATATATAT	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.853_854insATATATATATATATATAT	p.R285NA	non-syn	NA	-	-	-	-	-	-	het	2
4	2	31751174	C	+ATATATATATATATATAT	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.1022_1023insATATATATATATATATAT	p.P341NA	non-syn	NA	-	-	-	-	-	-	het	2
5	2	31751175	G	+AA	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.852_853insTT	p.R285NA	non-syn	NA	-	-	-	-	-	-	het	12
6	2	31751175	G	+AA	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.852_853insTT	p.R285NA	non-syn	NA	-	-	-	-	-	-	hom	1
7	2	31751175	G	+AA	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.1021_1022insTT	p.P341NA	non-syn	NA	-	-	-	-	-	-	het	12
8	2	31751175	G	+AA	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.1021_1022insTT	p.P341NA	non-syn	NA	-	-	-	-	-	-	hom	1
9	2	31751178	A	T	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.850T>A	p.S284T	non-syn	NA	-	-	-	-	-	-	het	1
10	2	31751178	A	T	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.1019T>A	p.V340D	non-syn	NA	-	-	-	-	-	-	het	1
11	2	31751223	C	T	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.805G>A	p.E269K	non-syn	rs28383082	0.01087	T=86/C=8034;T=12/C=3638;T=98/C=11672	-	-	-	-	hom	1
12	2	31751223	C	T	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.805G>A	p.E269K	non-syn	rs28383082	0.01087	T=86/C=8034;T=12/C=3638;T=98/C=11672	-	-	-	-	het	14
13	2	31751223	C	T	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.974G>A	p.325	syn	rs28383082	0.01087	T=86/C=8034;T=12/C=3638;T=98/C=11672	-	-	-	-	hom	1
14	2	31751223	C	T	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.974G>A	p.325	syn	rs28383082	0.01087	T=86/C=8034;T=12/C=3638;T=98/C=11672	-	-	-	-	het	14
15	2	31754481	G	A	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.591C>T	p.I197I	syn	rs28383064	0.00281	A=28/G=8268;A=2/G=3896;A=30/G=12164	lod=101:462	-	-	-	het	7
16	2	31754481	G	A	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.591C>T	p.I197I	syn	rs28383064	0.00281	A=28/G=8268;A=2/G=3896;A=30/G=12164	lod=101:462	-	-	-	hom	1
17	2	31754481	G	A	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.760C>T	p.H254Y	non-syn	rs28383064	0.00281	A=28/G=8268;A=2/G=3896;A=30/G=12164	lod=101:462	-	-	-	het	7
18	2	31754481	G	A	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.760C>T	p.H254Y	non-syn	rs28383064	0.00281	A=28/G=8268;A=2/G=3896;A=30/G=12164	lod=101:462	-	-	-	hom	1
19	2	31754497	T	C	ENST00000233139	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.575A>G	p.N192S	non-syn	NA	-	-	lod=106:468	DAMAGING	-	-	het	1
20	2	31754497	T	C	ENST00000405650	ENSG00000049319	31747550	31806136	-	SRD5A2	-1	-	c.744A>G	p.Q248Q	syn	NA	-	-	lod=106:468	DAMAGING	-	-	het	1

** 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 SRD5A2 2:31747550..31806136 region Gbrowse