Hs00534376_cn

• Gene Symbol: APPL2
• Assay Reference Genome Location: Chr.12:105173672 on build GRCh38
• Cytoband: 12q23.3

Target Gene Details

• Entrez Gene ID: 55198
• Gene Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
• Gene Aliases: DIP13B
• Location: Chr.12:105173297-105236230 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APPL2	NM_001251904.1	21	2873	NP_001238833.1
	NM_001251905.1	21	2898	NP_001238834.1
	NM_018171.3	21	2855	NP_060641.2
	XM_006719472.1	20	2651	XP_006719535.1
	XM_011538530.2	21	4325	XP_011536832.1
	XM_011538531.2	21	3988	XP_011536833.1
	XM_011538532.2	21	5314	XP_011536834.1
	XM_017019551.1	21	3260	XP_016875040.1
	XM_017019552.1	21	3970	XP_016875041.1
	XM_017019553.1	22	5568	XP_016875042.1
	XM_017019554.1	20	2633	XP_016875043.1
	AK001521.2
	AY113704.1	21	2855	AAM55530.1
	BC033731.1	21	2759	AAH33731.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832506	Chr.12:105067496 - 105243783 on Build GRCh38	Gain	KIAA1033 APPL2 LOC414300 ALDH1L2

More Information

Additional Information:

For this assay, SNP(s) [rs77173345] 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 -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

cell cycle
signal transduction
cell proliferation

Function(s)

protein binding