Hs07137967_cn

• Gene Symbol: GTPBP3
• Assay Reference Genome Location: Chr.19:17335748 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 84705
• Gene Name: GTP binding protein 3 (mitochondrial)
• Gene Aliases: COXPD23, GTPBG3, MSS1, MTGP1, THDF1
• Location: Chr.19:17334982-17342731 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTPBP3	NM_001195422.1			NP_001182351.1
	AK297953.1
	DC339966.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv578741	Chr.19:17335702 - 17339637 on Build GRCh38	Gain	GTPBP3
esv3643818	Chr.19:17331902 - 17338827 on Build GRCh38	Gain	ANO8 GTPBP3
nsv470129	Chr.19:17188084 - 17341718 on Build GRCh38	Loss	ANKLE1 USHBP1 MYO9B USE1 OCEL1 BABAM1 ANO8 DDA1 GTPBP3 NR2F6 ABHD8 MRPL34
esv21604	Chr.19:17332440 - 17339470 on Build GRCh38	Gain	ANO8 GTPBP3

More Information

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

Panther Classification:

Molecular Function -

RNA methyltransferase

Gene Ontology Categories:

Process(es)

tRNA wobble uridine modification
tRNA methylation

Function(s)

GTPase activity
protein binding
GTP binding