Name: [Hs00679397_cn] [PCSK6]
Creator: Thermo Fisher Scientific
Keywords: [PCSK6] Assay, [proprotein convertase subtilisin/kexin type 6] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	5046
Gene Name:	proprotein convertase subtilisin/kexin type 6
Gene Aliases:	PACE4, SPC4
Location:	Chr.15:101303928-101489984 on Build GRCh38
Assay Gene Location:	Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCSK6	NM_001291309.1	20	3730	NP_001278238.1
	NM_002570.4	22	3952	NP_002561.1
	NM_138319.3	21	3913	NP_612192.1
	AB208955.1	19	3131	BAD92192.1
	AI478762.1	1	608
	BU732171.1
	BX649058.1	2	2725
	D87995.1	21	3673	BAA21793.1
	M80482.1	22	3807	AAA59998.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv428314	Chr.15:101192611 - 101376281 on Build GRCh38	Loss	SNRPA1 LOC100507472 VIMP PCSK6 CHSY1 PCSK6-AS1
nsv570849	Chr.15:101300541 - 101324391 on Build GRCh38	Loss	LOC100507472 PCSK6
nsv833110	Chr.15:101179146 - 101337388 on Build GRCh38	Gain+Loss	SNRPA1 LOC100507472 VIMP PCSK6 CHSY1 PCSK6-AS1
esv2760063	Chr.15:101179938 - 101515252 on Build GRCh38	Gain+Loss	SNRPA1 LOC100507472 VIMP PCSK6 LOC107984751 CHSY1 PCSK6-AS1
nsv1049577	Chr.15:101123620 - 101501317 on Build GRCh38	Gain	SNRPA1 LOC100507472 VIMP PCSK6 LOC107984751 CHSY1 PCSK6-AS1
esv34275	Chr.15:100977272 - 101482551 on Build GRCh38	Gain	SNRPA1 LOC100507472 VIMP PCSK6 LRRK1 LOC107984751 CHSY1 PCSK6-AS1
esv3637501	Chr.15:101192692 - 101363437 on Build GRCh38	Gain	SNRPA1 LOC100507472 VIMP PCSK6 CHSY1 PCSK6-AS1
nsv570828	Chr.15:101086688 - 101408007 on Build GRCh38	Gain	SNRPA1 LOC100507472 VIMP PCSK6 CHSY1 PCSK6-AS1
dgv2673n100	Chr.15:101182262 - 101351332 on Build GRCh38	Gain	SNRPA1 LOC100507472 VIMP PCSK6 CHSY1 PCSK6-AS1
nsv1035599	Chr.15:101112625 - 101319838 on Build GRCh38	Gain	SNRPA1 LOC100507472 VIMP PCSK6 CHSY1