Name: [Hs01398128_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:	Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBTPS1	NM_003791.3	22	3415	NP_003782.1
	XM_017023816.1	21	3164	XP_016879305.1
	XM_017023817.1	23	3418	XP_016879306.1
	AK054744.1	2	2381
	AK091212.1	11	2125
	AK291773.1	22	3298
	AK299067.1	21	2640
	AL133583.1	7	680	CAB63727.1
	BC114555.1	22	3301	AAI14556.1
	BC114961.1	22	3301	AAI14962.1
	BM048055.1
	D42053.1	22	3378

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	MBTPS1 SLC38A8
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	LOC729887 MLYCD ADAD2 HSDL1 NECAB2 OSGIN1 TAF1C DNAAF1 LOC105371371 KCNG4 MBTPS1 SLC38A8
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	LOC729887 ADAD2 HSDL1 TAF1C DNAAF1 KCNG4 WFDC1 LOC105376777 MBTPS1 SLC38A8
nsv1909	Chr.16:84031468 - 84076703 on Build GRCh38	Deletion	MBTPS1 SLC38A8
dgv546e214	Chr.16:84011032 - 84095132 on Build GRCh38	Gain	MBTPS1 SLC38A8
nsv457595	Chr.16:84013110 - 84091665 on Build GRCh38	Gain	MBTPS1 SLC38A8
nsv952061	Chr.16:84049196 - 84062895 on Build GRCh38	Deletion	MBTPS1
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	LOC729887 ADAD2 HSDL1 TAF1C DNAAF1 KCNG4 MBTPS1 SLC38A8