Hs07023256_cn

• Gene Symbol: MBNL2
• Assay Reference Genome Location: Chr.13:97183556 on build GRCh38
• Cytoband: 13q32.1

Target Gene Details

• Entrez Gene ID: 10150
• Gene Name: muscleblind like splicing regulator 2
• Gene Aliases: MBLL, MBLL39, PRO2032
• Location: Chr.13:97141780-97394120 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBNL2	XM_011521045.2			XP_011519347.1
	XM_017020308.1			XP_016875797.1
	XM_017020309.1			XP_016875798.1
	XM_017020310.1			XP_016875799.1
	XM_017020311.1			XP_016875800.1
	CR749802.1			CAH18662.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1137	Chr.13:97151220 - 97196560 on Build GRCh38	Deletion	MBNL2 LINC00456

More Information

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

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

regulation of alternative mRNA splicing, via spliceosome
mRNA processing
RNA splicing
regulation of RNA splicing

Function(s)

poly(A) RNA binding
metal ion binding