Hs05005138_cn

• Gene Symbol: GARS
• Assay Reference Genome Location: Chr.7:30598322 on build GRCh38
• Cytoband: 7p14.3

Target Gene Details

• Entrez Gene ID: 2617
• Gene Name: glycyl-tRNA synthetase
• Gene Aliases: CMT2D, DSMAV, GlyRS, HMN5, SMAD1
• Location: Chr.7:30594735-30634033 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GARS	NM_001316772.1			NP_001303701.1
	NM_002047.3			NP_002038.2
	XM_006715686.2			XP_006715749.1
	AK074524.1
	AK295490.1
	AK310351.1
	BC007722.2			AAH07722.1
	BC007755.2			AAH07755.1
	D30658.1			BAA06338.1
	DA386636.1
	U09510.1			AAA86443.1
	U09587.1			AAA57001.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1024458	Chr.7:30562261 - 30610043 on Build GRCh38	Loss	GARS LOC401320
nsv436557	Chr.7:30288062 - 32730902 on Build GRCh38	Deletion	MIR550B1 DKFZP586I1420 LSM5 AQP1 NOD1 MIR550A1 INMT-FAM188B PPP1R17 GHRHR ADCYAP1R1 CCDC129 GARS LOC100130673 DPY19L1P1 ZNRF2 LINC01176 FAM188B AVL9 INMT ZNRF2P1 LOC401320 GGCT CRHR2 PDE1C LOC101928268 NEUROD6

More Information

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

Panther Classification:

Molecular Function -

aminoacyl-tRNA synthetase, translational protein

Gene Ontology Categories:

Process(es)

tRNA aminoacylation for protein translation
glycyl-tRNA aminoacylation
diadenosine tetraphosphate biosynthetic process

Function(s)

bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity
glycine-tRNA ligase activity
ATP binding
protein dimerization activity