Name: [Hs02189776_cn] [MBTPS1]
Creator: Thermo Fisher Scientific
Keywords: [MBTPS1] Assay, [membrane bound transcription factor peptidase, site 1] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	8720
Gene Name:	membrane bound transcription factor peptidase, site 1
Gene Aliases:	PCSK8, S1P, SKI-1
Location:	Chr.16:84053761-84116943 on Build GRCh38
Assay Gene Location:	Overlaps Intron 15 - Exon 15

Gene Symbol	Transcript Accession	Protein ID
MBTPS1	NM_003791.3	NP_003782.1
	XM_017023816.1	XP_016879305.1
	XM_017023817.1	XP_016879306.1
	AK091212.1
	AK291773.1
	AK299067.1
	BC114555.1	AAI14556.1
	BC114961.1	AAI14962.1
	BM048055.1
	D42053.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3639410	Chr.16:84055831 - 84075312 on Build GRCh38	Loss	MBTPS1
esv3892924	Chr.16:84014717 - 84091665 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	NECAB2 ADAD2 SLC38A8 LOC105371371 LOC729887 DNAAF1 KCNG4 HSDL1 MLYCD MBTPS1 OSGIN1 TAF1C
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	ADAD2 SLC38A8 WFDC1 LOC105376777 LOC729887 DNAAF1 KCNG4 HSDL1 MBTPS1 TAF1C
esv3892927	Chr.16:84058861 - 84081674 on Build GRCh38	Gain	MBTPS1
nsv1909	Chr.16:84031468 - 84076703 on Build GRCh38	Deletion	SLC38A8 MBTPS1
dgv546e214	Chr.16:84011032 - 84095132 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv457595	Chr.16:84013110 - 84091665 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	ADAD2 SLC38A8 LOC729887 DNAAF1 KCNG4 HSDL1 MBTPS1 TAF1C