Hs01144095_cn

• Gene Symbol: APH1B
• Assay Reference Genome Location: Chr.15:63279209 on build GRCh38
• Cytoband: 15q22.2

Target Gene Details

• Entrez Gene ID: 83464
• Gene Name: aph-1 homolog B, gamma-secretase subunit
• Gene Aliases: APH-1B, PRO1328, PSFL, TAAV688
• Location: Chr.15:63277519-63309126 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APH1B	NM_001145646.1	2	236	NP_001139118.1
	NM_031301.3	2	236	NP_112591.2
	XM_011522105.2	2	267	XP_011520407.1
	AB189172.1	2	176	BAD95573.1
	AB197122.1	3	240	BAE02660.1
	AF508794.1	2	176	AAN63817.1
	AK291204.1	2	178
	AK307456.1
	AK307725.1	2	298
	AL136671.1	2	182	CAB66606.1
	AY358698.1	2	170	AAQ89061.1
	BC020905.1	2	178	AAH20905.1
	BI825203.1	2	232
	DA397427.1	2	236

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428305	Chr.15:63040203 - 63322630 on Build GRCh38	Gain	TPM1 APH1B RAB8B RPS27L CA12 LACTB
nsv1035441	Chr.15:62406037 - 63349997 on Build GRCh38	Gain	TPM1 TLN2 APH1B LOC105370854 RAB8B LOC101928955 RPS27L CA12 MIR190A MGC15885 LACTB

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

Notch signaling pathway
Notch receptor processing
protein processing
membrane protein intracellular domain proteolysis
positive regulation of apoptotic process
positive regulation of catalytic activity
ephrin receptor signaling pathway

Function(s)

protein binding
peptidase activity