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See other MBTPS1 CNV Assays ›
Gene Symbol
MBTPS1
Assay Reference Genome
Location

Chr.16:84081897 on build GRCh38
Cytoband
16q23.3
Assay ID Hs01937438_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 10 - Exon 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MBTPS1 NM_003791.3 NP_003782.1
XM_017023816.1 XP_016879305.1
XM_017023817.1 XP_016879306.1
AK291773.1
AK299067.1
BC114555.1 AAI14556.1
BC114961.1 AAI14962.1
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 MBTPS1 SLC38A8
nsv833309 Chr.16:84076867 - 84248591 on Build GRCh38 Loss HSDL1 DNAAF1 MBTPS1 TAF1C KCNG4 LOC729887 ADAD2
nsv1065790 Chr.16:83830329 - 84243597 on Build GRCh38 Loss HSDL1 OSGIN1 DNAAF1 MBTPS1 TAF1C LOC105371371 KCNG4 LOC729887 ADAD2 MLYCD NECAB2 SLC38A8
esv2761930 Chr.16:84007420 - 84312461 on Build GRCh38 Gain HSDL1 DNAAF1 MBTPS1 TAF1C WFDC1 KCNG4 LOC729887 ADAD2 SLC38A8 LOC105376777
dgv546e214 Chr.16:84011032 - 84095132 on Build GRCh38 Gain MBTPS1 SLC38A8
nsv573421 Chr.16:84013110 - 84091665 on Build GRCh38 Gain MBTPS1 SLC38A8
nsv1059227 Chr.16:84029323 - 84233403 on Build GRCh38 Loss HSDL1 DNAAF1 MBTPS1 TAF1C KCNG4 LOC729887 ADAD2 SLC38A8

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