Hs04767372_cn

• Gene Symbol: NPHP3-ACAD11
• Assay Reference Genome Location: Chr.3:132678307 on build GRCh38
• Cytoband: 3q22.1

Target Gene Details

• Entrez Gene ID: 100532724
• Gene Name: NPHP3-ACAD11 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.3:132558138-132722459 on Build GRCh38
• Assay Gene Location: Within Intron 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPHP3-ACAD11	NR_037804.1
	AB082531.1			BAC02709.1
	AY257867.1			AAP83426.1

Target Gene Details

• Entrez Gene ID: 79876
• Gene Name: ubiquitin like modifier activating enzyme 5
• Gene Aliases: THIFP1, UBE1DC1
• Location: Chr.3:132654446-132679786 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBA5	BX537742.1	1	952

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv591798	Chr.3:132626804 - 132975557 on Build GRCh38	Loss	NPHP3-AS1 NPHP3 NPHP3-ACAD11 UBA5 ACAD11
nsv591799	Chr.3:132662755 - 133080365 on Build GRCh38	Gain	NPHP3-AS1 NPHP3 TMEM108 NPHP3-ACAD11 UBA5
nsv998211	Chr.3:132605119 - 132988974 on Build GRCh38	Loss	NPHP3-AS1 NPHP3 NPHP3-ACAD11 UBA5 ACAD11
nsv4014	Chr.3:132668918 - 132704197 on Build GRCh38	Insertion	NPHP3 NPHP3-ACAD11 UBA5

More Information

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