Hs00868626_cn

• Gene Symbol: AP1B1
• Assay Reference Genome Location: Chr.22:29328204 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 162
• Gene Name: adaptor related protein complex 1 beta 1 subunit
• Gene Aliases: ADTB1, AP105A, BAM22, CLAPB2
• Location: Chr.22:29327680-29388583 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP1B1	NM_001127.3	23	3654	NP_001118.3
	NM_001166019.1	21	3564	NP_001159491.1
	NM_145730.2	21	3624	NP_663782.2
	AK294406.1	14	2218
	BC046242.1	21	3564	AAH46242.1
	BX537680.1	4	3036	CAD97809.1
	CD364485.1	1	541
	L13939.1	22	3513	AAC98702.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834171	Chr.22:29230413 - 29433855 on Build GRCh38	Loss	SNORD125 AP1B1 GAS2L1 RASL10A EWSR1 RHBDD3 RFPL1 MIR3653 EMID1

More Information

Additional Information:

For this assay, SNP(s) [rs116328912] 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, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
determination of left/right symmetry
heart development
vesicle-mediated transport
antigen processing and presentation of exogenous peptide antigen via MHC class II
regulation of defense response to virus by virus

Function(s)

transporter activity
protein binding
protein transporter activity
protein kinase binding