Hs03355719_cn

• Gene Symbol: APH1A
• Assay Reference Genome Location: Chr.1:150269208 on build GRCh38
• Cytoband: 1q21.2

Target Gene Details

• Entrez Gene ID: 51107
• Gene Name: aph-1 homolog A, gamma-secretase subunit
• Gene Aliases: 6530402N02Rik, APH-1, APH-1A, CGI-78
• Location: Chr.1:150265399-150282291 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APH1A	NM_001077628.2			NP_001071096.1
	NM_001243771.1			NP_001230700.1
	NM_001243772.1			NP_001230701.1
	NM_016022.3			NP_057106.2
	NR_045033.1
	NR_045034.1
	NR_045035.1
	XM_017001417.1	3	585	XP_016856906.1
	DA589586.1	1	137
	DC365601.1	1	137

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1009508	Chr.1:150238763 - 150298405 on Build GRCh38	Loss	CIART APH1A MRPS21 C1orf54 CA14
nsv1011223	Chr.1:150256810 - 150306949 on Build GRCh38	Gain	CIART APH1A MRPS21 C1orf54 CA14

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

metanephros development
membrane protein ectodomain proteolysis
Notch signaling pathway
Notch receptor processing
protein processing
membrane protein intracellular domain proteolysis
amyloid precursor protein catabolic process
positive regulation of apoptotic process
positive regulation of catalytic activity
ephrin receptor signaling pathway

Function(s)

endopeptidase activity
protein binding