Hs05606556_cn

• Gene Symbol: EFNB1
• Assay Reference Genome Location: Chr.X:68829462 on build GRCh38
• Cytoband: Xq13.1

Target Gene Details

• Entrez Gene ID: 1947
• Gene Name: ephrin B1
• Gene Aliases: CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2
• Location: Chr.X:68828997-68842164 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFNB1	NM_004429.4	1	466	NP_004420.1
	AK311197.1	1	464
	BC016649.1	1	466	AAH16649.1
	BC052979.1	1	485	AAH52979.1
	BU172498.1	1	484
	L37361.1	1	212	AAA52369.1
	U09303.1	1	387	AAB41127.1
	U09304.1			AAA53093.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516469	Chr.X:68640253 - 68949573 on Build GRCh38	Gain	EFNB1 STARD8

More Information

Additional Information:

For this assay, SNP(s) [rs187341605] 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 -

membrane-bound signaling molecule

Gene Ontology Categories:

Process(es)

neural crest cell migration
cell adhesion
cell-cell signaling
axon guidance
embryonic pattern specification
T cell costimulation
positive regulation of T cell proliferation
ephrin receptor signaling pathway

Function(s)

protein binding
ephrin receptor binding