Hs00331848_cn

• Gene Symbol: AARS2
• Assay Reference Genome Location: Chr.6:44298771 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 57505
• Gene Name: alanyl-tRNA synthetase 2, mitochondrial
• Gene Aliases: AARSL, COXPD8, LKENP, MT-ALARS, MTALARS
• Location: Chr.6:44297850-44313358 on Build GRCh38
• Assay Gene Location: Overlaps Intron 22 - Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AARS2	NM_020745.3			NP_065796.1
	XM_005249245.3			XP_005249302.1
	XM_011514764.2			XP_011513066.1
	XM_017011112.1			XP_016866601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv462936	Chr.6:44224183 - 44314579 on Build GRCh38	Loss	TCTE1 MIR4647 SLC29A1 AARS2 TMEM151B SLC35B2 HSP90AB1 NFKBIE

More Information

Additional Information:

For this assay, SNP(s) [rs79454687] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

aminoacyl-tRNA synthetase

Gene Ontology Categories:

Process(es)

tRNA modification
mitochondrial respiratory chain complex assembly
mitochondrial alanyl-tRNA aminoacylation

Function(s)

tRNA binding
alanine-tRNA ligase activity
ATP binding
zinc ion binding
amino acid binding