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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 AMACR:

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
ENSG00000242110	AMACR	1	10	0	ENSG00000242110	ENST00000335606	ENSP00000334424	alpha-methylacyl-CoA racemase [Source:HGNC Symbol;Acc:451]	5	33986283	34008220	-1	p13.2	33986283	34008213	AMACR	AMACR-001	HGNC Symbol	HGNC transcript name	10	41.38	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23600	451	AMACR	NM_001167595	27527

MSeqDR Master Exome Data Set M1: 320 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	5	33986343	G	A	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs184103040	0.00367	-	-	-	-	-	het	5
2	5	33986409	C	G	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs13289	0.58802	-	-	-	-	Olive skin colour in Caucasians, assoc. with	het	298
3	5	33986409	C	G	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs13289	0.58802	-	-	-	-	Olive skin colour in Caucasians, assoc. with	hom	201
4	5	33986410	G	A	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs148899183	0.0143	-	-	-	-	-	het	3
5	5	33986427	C	T	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	5	33986428	G	A	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs115130403	0.00092	-	-	-	-	-	het	1
7	5	33986605	C	T	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs73077153	0.0111	-	-	-	-	-	het	1
8	5	33986606	T	C	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs115214355	0.0097	-	-	-	-	-	het	2
9	5	33986871	G	C	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs73077154	0.1358	-	-	-	-	-	het	13
10	5	33986871	G	C	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs73077154	0.1358	-	-	-	-	-	hom	4
11	5	33987110	T	A	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs182361997	0.0074	-	-	-	-	-	hom	2
12	5	33987154	G	T	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	5	33987219	C	G	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs186629199	-	-	-	-	-	-	het	1
14	5	33987237	C	T	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs113746028	0.0605	-	-	-	-	-	het	6
15	5	33987237	C	T	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs113746028	0.0605	-	-	-	-	-	hom	1
16	5	33987253	T	C	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs79880451	0.0315	-	-	-	-	-	het	2
17	5	33987253	T	C	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs79880451	0.0315	-	-	-	-	-	hom	1
18	5	33987346	G	A	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
19	5	33987346	G	A	ENST00000382072	ENSG00000242110	33986283	34008220	ENSP00000371504	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
20	5	33987394	C	A	ENST00000335606	ENSG00000242110	33986283	34008220	ENSP00000334424	AMACR	-1	AMACR_HUMAN	-	-	3'_UTR	rs116206502	0.01231	-	-	-	-	-	het	12

** 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 AMACR 5:33986283..34008220 region Gbrowse