Hs06528825_cn

• Gene Symbol: LURAP1
• Assay Reference Genome Location: Chr.1:46206548 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 541468
• Gene Name: leucine rich adaptor protein 1
• Gene Aliases: C1orf190, LRAP35a, LRP35A
• Location: Chr.1:46203334-46221256 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LURAP1	NM_001013615.2			NP_001013633.1
	AK057892.1			BAB71608.1
	BC034422.1			AAH34422.1

Target Gene Details

• Entrez Gene ID: 55624
• Gene Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
• Gene Aliases: GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2
• Location: Chr.1:46188681-46220305 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMGNT1	NM_001243766.1			NP_001230695.1
	AK056186.1
	CR749700.1			CAH18478.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470711	Chr.1:46194623 - 46344858 on Build GRCh38	Gain	POMGNT1 TSPAN1 LRRC41 RAD54L LURAP1 NSUN4 UQCRH
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	LOC101929626 TSPAN1 KNCN LRRC41 MKNK1-AS1 MAST2 FAAHP1 LURAP1 NSUN4 LINC01398 DMBX1 POMGNT1 FAAH PIK3R3 RAD54L UQCRH MKNK1

More Information

Additional Information:

For this assay, SNP(s) [rs114800079] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

positive regulation of cytokine production
cell migration
actomyosin structure organization
positive regulation of I-kappaB kinase/NF-kappaB signaling
protein O-linked glycosylation

Function(s)

protein binding
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity