Hs00607319_cn

• Gene Symbol: NGEF
• Assay Reference Genome Location: Chr.2:232879288 on build GRCh38
• Cytoband: 2q37.1

Target Gene Details

• Entrez Gene ID: 25791
• Gene Name: neuronal guanine nucleotide exchange factor
• Gene Aliases: ARHGEF27, EPHEXIN
• Location: Chr.2:232878686-233013241 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NGEF	NM_001114090.1	13	2210	NP_001107562.1
	NM_019850.2	15	2582	NP_062824.2
	XM_011510923.2	15	2548	XP_011509225.1
	XM_011510924.1	11	1581	XP_011509226.1
	XM_011510925.1	11	1585	XP_011509227.1
	AK297390.1	13	2210
	AK298315.1	14	2092
	AK300953.1
	BC031573.1	15	2569	AAH31573.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4188n100	Chr.2:232868642 - 232895809 on Build GRCh38	Gain	NGEF C2orf82
nsv953203	Chr.2:232867891 - 232898190 on Build GRCh38	Deletion	NGEF C2orf82
nsv1009825	Chr.2:232844856 - 232898760 on Build GRCh38	Gain	NGEF C2orf82 GIGYF2
nsv834570	Chr.2:232774450 - 232940357 on Build GRCh38	Gain	NGEF KCNJ13 C2orf82 GIGYF2

More Information

Additional Information:

For this assay, SNP(s) [rs73997601,rs73999703] 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 -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

regulation of Rho protein signal transduction
positive regulation of apoptotic process
regulation of GTPase activity
positive regulation of GTPase activity
ephrin receptor signaling pathway
regulation of small GTPase mediated signal transduction
negative regulation of dendritic spine morphogenesis

Function(s)

guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity