Hs02686645_cn

• Gene Symbol: GARS
• Assay Reference Genome Location: Chr.7:30598850 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GARS	NM_001316772.1	2	464	NP_001303701.1
	NM_002047.3	2	306	NP_002038.2
	XM_006715686.2	3	466	XP_006715749.1
	AK074524.1	2	367
	AK295490.1	3	326
	AK310351.1	2	315
	BC007722.2	2	324	AAH07722.1
	BC007755.2	2	282	AAH07755.1
	D30658.1	2	301	BAA06338.1
	DA386636.1	2	518
	U09510.1	2	479	AAA86443.1
	U09587.1	2	271	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	AQP1 LSM5 ADCYAP1R1 LOC101928268 INMT-FAM188B GARS ZNRF2P1 CCDC129 DKFZP586I1420 CRHR2 MIR550A1 FAM188B LOC401320 DPY19L1P1 INMT ZNRF2 GHRHR GGCT PDE1C NEUROD6 NOD1 LOC100130673 AVL9 MIR550B1 PPP1R17 LINC01176

More Information

• Set Membership: Intragenic, 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