Hs01689225_cn

• Gene Symbol: GTPBP3
• Assay Reference Genome Location: Chr.19:17341938 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTPBP3	NM_001128855.2	9	1746	NP_001122327.1
	NM_001195422.1	9	1802	NP_001182351.1
	NM_032620.3	9	1809	NP_116009.2
	NM_133644.3	8	1905	NP_598399.2
	AF360742.1	9	1771	AAK39555.1
	AF360743.1	9	1708	AAK39556.1
	AF360744.1	9	1688	AAK39557.1
	AK027606.1	9	1756	BAB55228.1
	AK091035.1
	AK297953.1
	AY078987.1	8	1867	AAL85492.1
	AY078988.1	9	1771	AAL85493.1
	BC008924.2	7	1286
	BC017207.2	9	1741	AAH17207.1
	BC019261.1	9	1750	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	TMEM221 SLC27A1 BISPR FAM129C MVB12A GTPBP3 BST2 PGLS NXNL1 PLVAP LOC105372343

More Information

Additional Information:

• Set Membership: Intragenic, Exonic, DGV Variation, Validated

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