Hs03816210_cn

• Gene Symbol: SETD1B
• Assay Reference Genome Location: Chr.12:121825248 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 23067
• Gene Name: SET domain containing 1B
• Gene Aliases: KMT2G, Set1B
• Location: Chr.12:121803665-121832656 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETD1B	NM_015048.1	13	5096	NP_055863.1
	XM_005253858.4	13	5384	XP_005253915.1
	XM_006719296.3	13	5300	XP_006719359.1
	AB028999.1	3	1734	BAA83028.1
	JF813787.1	12	5219

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160065	Chr.12:121780583 - 121859371 on Build GRCh38	Deletion	TMEM120B SETD1B RHOF HPD LINC01089
esv3892268	Chr.12:121747658 - 121845875 on Build GRCh38	Loss	TMEM120B SETD1B RHOF HPD LINC01089
nsv911	Chr.12:121796618 - 121841519 on Build GRCh38	Deletion	SETD1B HPD LINC01089

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
histone H3-K4 methylation

Function(s)

nucleotide binding
RNA binding
protein binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K4 specific)