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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 ASAH1:

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
ENSG00000104763	ASAH1	0	0	13	ENSG00000104763	ENST00000262097	ENSP00000262097	N-acylsphingosine amidohydrolase (acid ceramidase) 1 [Source:HGNC Symbol;Acc:735]	8	17913934	17942494	-1	p22	17913934	17941879	ASAH1	ASAH1-001	HGNC Symbol	HGNC transcript name	14	40.82	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	427	735	ASAH1	NM_177924	27523

MSeqDR Master Exome Data Set M1: 518 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	8	17913940	G	A	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs28393365	0.2059	-	-	-	-	-	het	31
2	8	17913940	G	A	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs28393365	0.2059	-	-	-	-	-	hom	2
3	8	17913940	G	A	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs28393365	0.2059	-	-	-	-	-	het	31
4	8	17913940	G	A	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs28393365	0.2059	-	-	-	-	-	hom	2
5	8	17913970	G	A	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	het	273
6	8	17913970	G	A	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	hom	325
7	8	17913970	G	A	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	het	273
8	8	17913970	G	A	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	hom	325
9	8	17913970	G	A	ENST00000417108	ENSG00000104763	17913934	17942494	ENSP00000394125	ASAH1	-1	-	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	het	273
10	8	17913970	G	A	ENST00000417108	ENSG00000104763	17913934	17942494	ENSP00000394125	ASAH1	-1	-	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	hom	325
11	8	17913970	G	A	ENST00000520781	ENSG00000104763	17913934	17942494	ENSP00000427751	ASAH1	-1	-	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	het	273
12	8	17913970	G	A	ENST00000520781	ENSG00000104763	17913934	17942494	ENSP00000427751	ASAH1	-1	-	-	-	3'_UTR	rs7508	0.68073	-	-	-	-	-	hom	325
13	8	17914111	G	A	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs7002731	0.1213	-	-	-	-	-	het	7
14	8	17914111	G	A	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs7002731	0.1213	-	-	-	-	-	het	7
15	8	17914111	G	A	ENST00000417108	ENSG00000104763	17913934	17942494	ENSP00000394125	ASAH1	-1	-	-	-	3'_UTR	rs7002731	0.1213	-	-	-	-	-	het	7
16	8	17914111	G	A	ENST00000520781	ENSG00000104763	17913934	17942494	ENSP00000427751	ASAH1	-1	-	-	-	3'_UTR	rs7002731	0.1213	-	-	-	-	-	het	7
17	8	17914117	T	G	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs3810	0.51009	-	-	-	-	-	het	301
18	8	17914117	T	G	ENST00000262097	ENSG00000104763	17913934	17942494	ENSP00000262097	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs3810	0.51009	-	-	-	-	-	hom	229
19	8	17914117	T	G	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs3810	0.51009	-	-	-	-	-	het	301
20	8	17914117	T	G	ENST00000381733	ENSG00000104763	17913934	17942494	ENSP00000371152	ASAH1	-1	ASAH1_HUMAN	-	-	3'_UTR	rs3810	0.51009	-	-	-	-	-	hom	229

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Transcripts and variants in the surrounding ASAH1 8:17913934..17942494 region Gbrowse