Hs05791249_cn

• Gene Symbol: IARS2
• Assay Reference Genome Location: Chr.1:220118178 on build GRCh38
• Cytoband: 1q41

Target Gene Details

• Entrez Gene ID: 55699
• Gene Name: isoleucyl-tRNA synthetase 2, mitochondrial
• Gene Aliases: CAGSSS, ILERS
• Location: Chr.1:220094113-220148041 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IARS2	NM_018060.3			NP_060530.3
	AK001188.1			BAA91544.1
	AK001726.1
	AK022665.1			BAB14164.1
	AK291432.1
	AY267462.1
	BC010218.1			AAH10218.2
	BC040376.1
	BC047880.1			AAH47880.3
	BC137438.1
	D28500.1			BAA95147.1

Target Gene Details

• Entrez Gene ID: 406969
• Gene Name: microRNA 194-1
• Gene Aliases: MIRN194-1, mir-194-1
• Location: Chr.1:220118157-220118241 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR194-1	NR_029711.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832636	Chr.1:219966355 - 220121010 on Build GRCh38	Loss	MIR194-1 MIR215 BPNT1 IARS2 EPRS
nsv947468	Chr.1:220114634 - 220119407 on Build GRCh38	Deletion	MIR194-1 MIR215 IARS2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

aminoacyl-tRNA synthetase

Gene Ontology Categories:

Process(es)

tRNA aminoacylation for protein translation
isoleucyl-tRNA aminoacylation
regulation of translational fidelity

Function(s)

tRNA binding
aminoacyl-tRNA editing activity
isoleucine-tRNA ligase activity
ATP binding