Hs05343046_cn

• Gene Symbol: FAM219B
• Assay Reference Genome Location: Chr.15:74899314 on build GRCh38
• Cytoband: 15q24.1

Target Gene Details

• Entrez Gene ID: 57184
• Gene Name: family with sequence similarity 219 member B
• Gene Aliases: C15orf17
• Location: Chr.15:74898763-74907228 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM219B	XM_017022433.1			XP_016877922.1

Target Gene Details

• Entrez Gene ID: 4351
• Gene Name: mannose phosphate isomerase
• Gene Aliases: CDG1B, PMI, PMI1
• Location: Chr.15:74890011-74899457 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPI	NM_001289155.1	7	2710	NP_001276084.1
	NM_001289156.1	7	2791	NP_001276085.1
	NM_001289157.1	7	2736	NP_001276086.1
	NM_002435.2	8	2919	NP_002426.1
	AW445009.1	1	159
	BX648475.1	7	2687

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1121512	Chr.15:72670085 - 75273877 on Build GRCh38	Deletion	MIR4513 LOC729739 LOC101929333 NPTN-IT1 HIGD2B LMAN1L CCDC33 UBL7 STRA6 ISLR2 PML ISLR GOLGA6C UBL7-AS1 CYP1A2 MIR6882 SCAMP5 NEO1 LOC105376731 LOC107984728 CPLX3 C15orf59 PPCDC ULK3 CLK3 HCN4 BBS4 MPI CYP11A1 SCAMP2 C15orf39 LOC283731 NPTN FAM219B C15orf59-AS1 STOML1 LOXL1 CD276 RPP25 GOLGA6A MIR6881 SEMA7A ADPGK EDC3 CSK CYP1A1 LOC732265 COX5A LOC102723750 TBC1D21 REC114 ARID3B ADPGK-AS1 LOXL1-AS1

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

GDP-mannose biosynthetic process
mannose to fructose-6-phosphate metabolic process

Function(s)

mannose-6-phosphate isomerase activity
zinc ion binding