Hs07159706_cn

• Gene Symbol: GTPBP3
• Assay Reference Genome Location: Chr.19:17340399 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 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTPBP3	NM_001128855.2			NP_001122327.1
	NM_001195422.1			NP_001182351.1
	NM_032620.3			NP_116009.2
	NM_133644.3			NP_598399.2
	AF360742.1			AAK39555.1
	AF360743.1			AAK39556.1
	AF360744.1			AAK39557.1
	AK027606.1			BAB55228.1
	AK091035.1
	AK291929.1
	AK297953.1
	AK310794.1
	AY078987.1			AAL85492.1
	AY078988.1			AAL85493.1
	BC008924.2
	BC017207.2			AAH17207.1
	BC019261.1			AAH19261.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833768	Chr.19:17338840 - 17526738 on Build GRCh38	Loss	BISPR SLC27A1 FAM129C NXNL1 PLVAP BST2 PGLS MVB12A GTPBP3 LOC105372343 TMEM221
nsv470129	Chr.19:17188084 - 17341718 on Build GRCh38	Loss	ANKLE1 ABHD8 OCEL1 DDA1 ANO8 USHBP1 MRPL34 GTPBP3 BABAM1 USE1 MYO9B NR2F6

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