Hs03011247_cn

• Gene Symbol: ITM2A
• Assay Reference Genome Location: Chr.X:79360528 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	1558	NP_001165052.1
	NM_004867.4	6	1690	NP_004858.1
	AK223327.1	6	1469	BAD97047.1
	AY359051.1	6	1431	AAQ89410.1
	BC040437.1	6	1445	AAH40437.1
	BM561934.1	3	933
	U38439.1	1	128

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

• 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