Hs06552525_cn

• Gene Symbol: PMF1-BGLAP
• Assay Reference Genome Location: Chr.1:156241295 on build GRCh38
• Cytoband: 1q22

Target Gene Details

• Entrez Gene ID: 100527963
• Gene Name: PMF1-BGLAP readthrough
• Gene Aliases: PMF1
• Location: Chr.1:156212988-156243332 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMF1-BGLAP	NM_001199661.1			NP_001186590.1
	NM_001199662.1			NP_001186591.1
	NM_001199663.1			NP_001186592.1
	NM_001199664.1			NP_001186593.1
	CD049192.1
	CD388852.1
	FY213424.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509524	Chr.1:156238274 - 156308437 on Build GRCh38	Insertion	PAQR6 PMF1-BGLAP TMEM79 PMF1 BGLAP VHLL SMG5 GLMP

More Information

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