Hs01582704_cn

• Gene Symbol: EME1
• Assay Reference Genome Location: Chr.17:50375319 on build GRCh38
• Cytoband: 17q21.33

Target Gene Details

• Entrez Gene ID: 146956
• Gene Name: essential meiotic structure-specific endonuclease 1
• Gene Aliases: MMS4L, SLX2A
• Location: Chr.17:50373220-50381479 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EME1	NM_001166131.1	2	193	NP_001159603.1
	NM_152463.2	2	193	NP_689676.2
	XM_005257081.3	2	189	XP_005257138.1
	XM_011524395.2	2	159	XP_011522697.1
	XM_017024236.1	2	193	XP_016879725.1
	AK055926.1	2	184	BAB71047.1
	AK308275.1	2	159
	BC016470.2	1	136	AAH16470.1
	DA006645.1	2	188
	DB245967.1	2	193

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833475	Chr.17:50219520 - 50388833 on Build GRCh38	Loss	TMEM92 EME1 XYLT2 LRRC59 TMEM92-AS1 MRPL27
nsv833476	Chr.17:50316997 - 50473985 on Build GRCh38	Loss	EME1 CHAD XYLT2 LRRC59 ACSF2 MRPL27

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

DNA recombination
interstrand cross-link repair
response to intra-S DNA damage checkpoint signaling
nucleic acid phosphodiester bond hydrolysis

Function(s)

DNA binding
endodeoxyribonuclease activity
protein binding
metal ion binding