Hs06361972_cn

• Gene Symbol: GATC
• Assay Reference Genome Location: Chr.12:120455534 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 283459
• Gene Name: glutamyl-tRNA amidotransferase subunit C
• Gene Aliases: 15E1.2
• Location: Chr.12:120446438-120463753 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GATC	NM_176818.2			NP_789788.1
	NR_033684.1
	AK094319.1
	BC107145.1			AAI07146.1
	BC107146.1			AAI07147.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509482	Chr.12:120435117 - 120495113 on Build GRCh38	Insertion	DYNLL1 GATC NRAV SRSF9 TRIAP1 COX6A1

More Information

Additional Information:

For this assay, SNP(s) [rs114266423] 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)

regulation of translational fidelity
mitochondrial translation
glutaminyl-tRNAGln biosynthesis via transamidation

Function(s)

protein binding
ATP binding
glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity