Hs00248461_cn

• Gene Symbol: GMPPB
• Assay Reference Genome Location: Chr.3:49721864 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 29925
• Gene Name: GDP-mannose pyrophosphorylase B
• Gene Aliases: MDDGA14, MDDGB14, MDDGC14
• Location: Chr.3:49721476-49723974 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GMPPB	NM_013334.3	8	1300	NP_037466.2
	NM_021971.2			NP_068806.1
	AF135421.1			AAD38516.1
	AK024319.1	8	1277	BAB14882.1
	AK026582.1
	AK291700.1
	BC001141.1			AAH01141.1
	BC008033.1			AAH08033.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508217	Chr.3:49578013 - 49732463 on Build GRCh38	Deletion	GMPPB IP6K1 APEH MST1 BSN RNF123 AMIGO3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

GDP-mannose biosynthetic process

Function(s)

mannose-1-phosphate guanylyltransferase activity
protein binding
GTP binding