Hs00751118_cn

• Gene Symbol: GTPBP3
• Assay Reference Genome Location: Chr.19:17341528 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	1336	NP_001122327.1
	NM_001195422.1	9	1392	NP_001182351.1
	NM_032620.3	9	1399	NP_116009.2
	NM_133644.3	8	1495	NP_598399.2
	AF360742.1	9	1361	AAK39555.1
	AF360743.1	9	1298	AAK39556.1
	AF360744.1	9	1278	AAK39557.1
	AK027606.1	9	1346	BAB55228.1
	AK091035.1	8	2137
	AK291929.1	9	1343
	AK297953.1	9	1374
	AY078987.1	8	1457	AAL85492.1
	AY078988.1	9	1361	AAL85493.1
	BC008924.2	7	876
	BC017207.2	9	1331	AAH17207.1
	BC019261.1	9	1340	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	BST2 FAM129C PLVAP PGLS NXNL1 BISPR MVB12A TMEM221 SLC27A1 LOC105372343 GTPBP3
nsv470129	Chr.19:17188084 - 17341718 on Build GRCh38	Loss	ANO8 BABAM1 ABHD8 USHBP1 DDA1 NR2F6 MYO9B MRPL34 USE1 ANKLE1 OCEL1 GTPBP3

More Information

• Set Membership: Intragenic, 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