Name: [Hs01165639_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 - Exon 24

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
	AK054744.1
	AK091212.1
	AL133583.1	CAB63727.1
	BM680126.1
	D42053.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3892924	Chr.16:84014717 - 84091665 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	OSGIN1 SLC38A8 NECAB2 HSDL1 DNAAF1 LOC105371371 LOC729887 MBTPS1 MLYCD TAF1C ADAD2 KCNG4
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	SLC38A8 WFDC1 HSDL1 DNAAF1 LOC729887 MBTPS1 TAF1C ADAD2 LOC105376777 KCNG4
nsv1909	Chr.16:84031468 - 84076703 on Build GRCh38	Deletion	SLC38A8 MBTPS1
dgv546e214	Chr.16:84011032 - 84095132 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv573421	Chr.16:84013110 - 84091665 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	SLC38A8 HSDL1 DNAAF1 LOC729887 MBTPS1 TAF1C ADAD2 KCNG4
nsv952061	Chr.16:84049196 - 84062895 on Build GRCh38	Deletion	MBTPS1