Hs00818008_cn

• Gene Symbol: AP4B1
• Assay Reference Genome Location: Chr.1:113895179 on build GRCh38
• Cytoband: 1p13.2

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 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4B1	NM_001253852.2	10	2312	NP_001240781.1
	NM_001253853.2	11	2237	NP_001240782.1
	NM_001308312.1	7	1808	NP_001295241.1
	NM_006594.4	11	2365	NP_006585.2
	XM_011540523.2	10	2218	XP_011538825.1
	XM_011540524.2	9	2052	XP_011538826.1
	XM_011540525.2	9	2164	XP_011538827.1
	XM_011540528.2	10	5070	XP_011538830.1
	XM_017000088.1	10	4049	XP_016855577.1
	XM_017000089.1	8	1848	XP_016855578.1
	XM_017000090.1	8	1803	XP_016855579.1
	XM_017000091.1	7	1852	XP_016855580.1
	XM_017000092.1	11	2429	XP_016855581.1
	AB209817.1	10	2249	BAD93054.1
	AF092094.1	11	2309	AAD20448.1
	AK001045.1	4	1817
	AK057567.1	2	2548
	AK093740.1	7	1713
	AK300204.1	11	2076
	AK314641.1	11	2269
	AW072594.1
	BC014146.2	10	2170	AAH14146.1

Target Gene Details

• Entrez Gene ID: 100287722
• Gene Name: AP4B1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.1:113812612-113901237 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4B1-AS1	NR_037864.1
	NR_125965.1
	AK123199.1
	DB028504.1
	DB074478.1

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	AP4B1 HIPK1 BCL2L15 AP4B1-AS1 DCLRE1B HIPK1-AS1 PTPN22
esv3587240	Chr.1:113533246 - 114158910 on Build GRCh38	Loss	AP4B1 PHTF1 RSBN1 OLFML3 HIPK1 BCL2L15 AP4B1-AS1 DCLRE1B MAGI3 SYT6 HIPK1-AS1 PTPN22
esv23869	Chr.1:113320330 - 114358495 on Build GRCh38	Loss	AP4B1 PHTF1 RSBN1 OLFML3 HIPK1 BCL2L15 AP4B1-AS1 DCLRE1B MAGI3 SYT6 HIPK1-AS1 PTPN22

More Information

Additional Information:

For this assay, SNP(s) [rs201156296] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
vesicle-mediated transport

Function(s)

transporter activity
protein binding
protein transporter activity