Hs02574672_cn

• Gene Symbol: ITM2A
• Assay Reference Genome Location: Chr.X:79360902 on build GRCh38
• Cytoband: Xq21.1

Target Gene Details

• Entrez Gene ID: 9452
• Gene Name: integral membrane protein 2A
• Gene Aliases: BRICD2A, E25A
• Location: Chr.X:79360384-79367552 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITM2A	NM_001171581.1	5	1184	NP_001165052.1
	NM_004867.4	6	1316	NP_004858.1
	AK223327.1	6	1095	BAD97047.1
	AK303238.1	5	966
	AY359051.1	6	1057	AAQ89410.1
	BC040437.1	6	1071	AAH40437.1
	BM561934.1	3	559

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519126	Chr.X:79331247 - 79373681 on Build GRCh38	Gain	ITM2A

More Information

Additional Information:

For this assay, SNP(s) [rs140404473] 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

Gene Ontology Categories:

Process(es)

nervous system development
negative regulation of amyloid precursor protein biosynthetic process

Function(s)

beta-amyloid binding
protein binding