Hs04012868_cn

• Gene Symbol: EFNA2
• Assay Reference Genome Location: Chr.19:1291312 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 1943
• Gene Name: ephrin A2
• Gene Aliases: ELF-1, EPLG6, HEK7-L, LERK-6, LERK6
• Location: Chr.19:1282817-1301431 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFNA2	NM_001405.3			NP_001396.2
	XM_017026449.1			XP_016881938.1
	XM_017026450.1			XP_016881939.1
	AJ007292.1			CAA07435.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055164	Chr.19:1246647 - 1389804 on Build GRCh38	Gain	CIRBP-AS1 MUM1 C19orf24 CIRBP MIDN EFNA2 NDUFS7
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	CIRBP-AS1 C19orf24 POLR2E CBARP ABCA7 STK11 CIRBP LOC102725180 GPX4 CNN2 ARHGAP45 ATP5D MIDN EFNA2 SBNO2
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	CIRBP-AS1 TMEM259 GRIN3B C19orf24 RNU6-9 POLR2E KISS1R CBARP ABCA7 STK11 CIRBP LOC102725180 LOC105372235 GPX4 ARID3A R3HDM4 CNN2 RNU6-2 ARHGAP45 ATP5D MIDN EFNA2 SBNO2 WDR18
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	CIRBP-AS1 C19orf24 CBARP STK11 CIRBP ATP5D LOC102725180 MIDN EFNA2 SBNO2
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	CIRBP-AS1 GRIN3B C19orf24 STK11 ARID3A MIDN WDR18 TMEM259 RNU6-9 POLR2E KISS1R CBARP ABCA7 CIRBP LOC102725180 LOC105372235 GPX4 R3HDM4 CNN2 RNU6-2 ARHGAP45 MED16 ATP5D EFNA2 SBNO2
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	CIRBP-AS1 C19orf24 CBARP STK11 CIRBP ATP5D MIDN EFNA2
esv3643391	Chr.19:1273202 - 1294781 on Build GRCh38	Gain	C19orf24 CIRBP EFNA2
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	CIRBP-AS1 C19orf24 CBARP STK11 CIRBP ATP5D MIDN EFNA2
esv3643389	Chr.19:1264454 - 1397379 on Build GRCh38	Gain	CIRBP-AS1 MUM1 C19orf24 GAMT CIRBP EFNA2 NDUFS7
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	CIRBP-AS1 C19orf24 POLR2E CBARP STK11 CIRBP LOC102725180 GPX4 ARHGAP45 ATP5D MIDN EFNA2 SBNO2
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	CIRBP-AS1 MUM1 GRIN3B C19orf24 GAMT STK11 DAZAP1 PLK5 ARID3A MIDN WDR18 NDUFS7 TMEM259 POLR2E CBARP ABCA7 CIRBP LOC102725180 RPS15 LOC105372235 C19orf25 GPX4 ADAMTSL5 CNN2 RNU6-2 APC2 ARHGAP45 PCSK4 REEP6 ATP5D EFNA2 SBNO2

More Information

Additional Information:

For this assay, SNP(s) [rs73494695] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane-bound signaling molecule

Gene Ontology Categories:

Process(es)

cell-cell signaling
axon guidance
olfactory bulb development
osteoclast differentiation
bone remodeling
ephrin receptor signaling pathway

Function(s)

ephrin receptor binding