Hs06357117_cn

• Gene Symbol: PRPF40B
• Assay Reference Genome Location: Chr.12:49624449 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 25766
• Gene Name: pre-mRNA processing factor 40 homolog B
• Gene Aliases: HYPC
• Location: Chr.12:49622717-49644669 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPF40B	NM_001031698.2			NP_001026868.2
	NM_012272.2			NP_036404.1
	XM_006719324.3	1	547	XP_006719387.1
	XM_006719325.3	1	547	XP_006719388.1
	XM_011538135.2	1	547	XP_011536437.1
	XM_011538136.2	1	547	XP_011536438.1
	XM_011538137.2	1	547	XP_011536439.1
	XM_011538138.2	1	547	XP_011536440.1
	XM_011538139.2			XP_011536441.1
	XM_011538140.2			XP_011536442.1
	XM_011538143.2			XP_011536445.1
	XM_017019135.1			XP_016874624.1
	XM_017019138.1	1	547	XP_016874627.1
	AK123353.1
	AL834216.1			CAD38898.1
	BC050398.2			AAH50398.1
	CN288346.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832406	Chr.12:49466910 - 49668353 on Build GRCh38	Loss	PRPF40B FAM186B KCNH3 SPATS2 MCRS1 LOC100422296 FMNL3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome

Function(s)

RNA binding