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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 SERAC1:

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
ENSG00000122335	SERAC1	1	231	26	ENSG00000122335	ENST00000367104	ENSP00000356071	serine active site containing 1 [Source:HGNC Symbol;Acc:21061]	6	158530536	158589312	-1	q25.3	158530547	158589302	SERAC1	SERAC1-001	HGNC Symbol	HGNC transcript name	8	39.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84947	21061	SERAC1	NM_032861	27515

MSeqDR Master Exome Data Set M1: 119 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	6	158530614	C	T	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs113233603	0.0481	-	-	-	-	-	het	3
2	6	158530614	C	T	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs113233603	0.0481	-	-	-	-	-	het	3
3	6	158530615	G	A	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	6	158530615	G	A	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	6	158530649	A	G	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs145568162	-	-	-	-	-	-	het	6
6	6	158530649	A	G	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs145568162	-	-	-	-	-	-	het	6
7	6	158530721	A	C	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs148876640	0.0293	-	-	-	-	-	het	3
8	6	158530721	A	C	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs148876640	0.0293	-	-	-	-	-	het	3
9	6	158530803	G	-GATA	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs145112477	-	-	-	-	-	-	het	3
10	6	158530803	G	-GATA	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs145112477	-	-	-	-	-	-	het	3
11	6	158530842	C	T	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs62437108	0.03727	-	-	-	-	-	hom	2
12	6	158530842	C	T	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs62437108	0.03727	-	-	-	-	-	het	61
13	6	158530842	C	T	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs62437108	0.03727	-	-	-	-	-	hom	2
14	6	158530842	C	T	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs62437108	0.03727	-	-	-	-	-	het	61
15	6	158530880	A	G	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs73797638	0.0236	-	-	-	-	-	het	4
16	6	158530880	A	G	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	rs73797638	0.0236	-	-	-	-	-	het	4
17	6	158530997	G	T	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	6	158530997	G	T	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
19	6	158531005	C	T	ENST00000367102	ENSG00000122335	158530536	158589312	ENSP00000356069	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	6	158531005	C	T	ENST00000367104	ENSG00000122335	158530536	158589312	ENSP00000356071	SERAC1	-1	SRAC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding SERAC1 6:158530536..158589312 region Gbrowse