Name: [Hs02753329_cn] [AP4B1]
Creator: Thermo Fisher Scientific
Keywords: [AP4B1] Assay, [adaptor related protein complex 4 beta 1 subunit] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	10717
Gene Name:	adaptor related protein complex 4 beta 1 subunit
Gene Aliases:	BETA-4, CPSQ5, SPG47
Location:	Chr.1:113894194-113905202 on Build GRCh38
Assay Gene Location:	Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4B1	NM_001253852.2	2	368	NP_001240781.1
	NM_001253853.2			NP_001240782.1
	NM_001308312.1			NP_001295241.1
	NM_006594.4	3	421	NP_006585.2
	XM_011540523.2			XP_011538825.1
	XM_011540524.2			XP_011538826.1
	XM_011540525.2	3	499	XP_011538827.1
	XM_011540528.2	2	2105	XP_011538830.1
	XM_017000088.1	2	2105	XP_016855577.1
	XM_017000089.1	2	216	XP_016855578.1
	XM_017000090.1			XP_016855579.1
	XM_017000091.1	3	499	XP_016855580.1
	XM_017000092.1	2	216	XP_016855581.1
	XM_017000093.1	2	216	XP_016855582.1
	AB209817.1	2	305	BAD93054.1
	AF092094.1	3	365	AAD20448.1
	AK093740.1
	AK298037.1	2	308
	AK300204.1
	AK314641.1	3	325
	BC014146.2	2	226	AAH14146.1
	BG718098.1
	DC299853.1	2	348
	DC367373.1	3	417
	DC368382.1	2	368
	DC390197.1	3	403

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3587251	Chr.1:113871703 - 113936287 on Build GRCh38	Loss	BCL2L15 HIPK1-AS1 HIPK1 PTPN22 AP4B1-AS1 DCLRE1B AP4B1
esv3587240	Chr.1:113533246 - 114158910 on Build GRCh38	Loss	BCL2L15 RSBN1 HIPK1-AS1 HIPK1 OLFML3 PTPN22 SYT6 MAGI3 PHTF1 AP4B1-AS1 DCLRE1B AP4B1
nsv819786	Chr.1:113901490 - 113903616 on Build GRCh38	Loss	AP4B1
esv23869	Chr.1:113320330 - 114358495 on Build GRCh38	Loss	BCL2L15 RSBN1 HIPK1-AS1 HIPK1 OLFML3 PTPN22 SYT6 MAGI3 PHTF1 AP4B1-AS1 DCLRE1B AP4B1