Hs02517752_cn

• Gene Symbol: GART
• Assay Reference Genome Location: Chr.21:33524887 on build GRCh38
• Cytoband: 21q22.11

Target Gene Details

• Entrez Gene ID: 2618
• Gene Name: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
• Gene Aliases: AIRS, GARS, GARTF, PAIS, PGFT, PRGS
• Location: Chr.21:33503931-33542917 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GART	NM_000819.4	11	1315	NP_000810.1
	NM_001136005.1	11	1491	NP_001129477.1
	NM_001136006.1	11	1454	NP_001129478.1
	NM_175085.2	11	1315	NP_780294.1
	XM_005260941.1	11	1591	XP_005260998.1
	XM_006723989.1	11	1533	XP_006724052.1
	XM_006723990.1	11	1421	XP_006724053.1
	XM_011529526.1	11	1500	XP_011527828.1
	AB208785.1	11	1381	BAD92022.1
	AK292560.1	11	1430
	AK292897.1	11	1268
	BC038958.1	11	1278	AAH38958.1
	BC093641.1	10	1234	AAH93641.1
	BC101565.1	10	1234	AAI01566.1
	BC107712.1	11	1269	AAI07713.1
	BX648124.1	11	1432
	D32051.1	11	1251	BAA06809.1
	X54199.1	11	1258	CAA38119.1

More Information

• Set Membership: Intragenic, Exonic, non-DGV Variation

Gene Ontology Categories:

Process(es)

brainstem development
'de novo' IMP biosynthetic process
glycine metabolic process
purine nucleobase biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
response to organic substance
response to inorganic substance
cerebellum development
cerebral cortex development
tetrahydrofolate biosynthetic process

Function(s)

phosphoribosylamine-glycine ligase activity
phosphoribosylformylglycinamidine cyclo-ligase activity
phosphoribosylglycinamide formyltransferase activity
ATP binding
metal ion binding