Hs06404014_cn

• Gene Symbol: EEF1AKMT1
• Assay Reference Genome Location: Chr.13:20747918 on build GRCh38
• Cytoband: 13q12.11

Target Gene Details

• Entrez Gene ID: 221143
• Gene Name: eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1
• Gene Aliases: ESP13, N6AMT2
• Location: Chr.13:20728931-20773958 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EEF1AKMT1	NM_001318939.1			NP_001305868.1
	NM_174928.2			NP_777588.1
	NR_134934.1
	XM_017020432.1			XP_016875921.1
	AK316604.1
	BC018091.1			AAH18091.1
	DA514874.1
	DQ823637.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832558	Chr.13:20610161 - 20752668 on Build GRCh38	Loss	EEF1AKMT1 IFT88 IL17D

More Information

Additional Information:

For this assay, SNP(s) [rs78081368] 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

Gene Ontology Categories:

Process(es)

peptidyl-lysine methylation

Function(s)

nucleic acid binding
protein-lysine N-methyltransferase activity