Hs03936333_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30960222 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 9739
• Gene Name: SET domain containing 1A
• Gene Aliases: KMT2F, Set1, Set1A
• Location: Chr.16:30956618-30984664 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETD1A	NM_014712.2			NP_055527.1
	XM_005255723.1			XP_005255780.1
	XM_006721106.3			XP_006721169.1
	XM_017023909.1			XP_016879398.1
	AB002337.2
	BC035795.2			AAH35795.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv457483	Chr.16:30892358 - 31180161 on Build GRCh38	Loss	VKORC1 CTF1 PRSS8 LOC101928762 MIR762HG PRSS36 HSD3B7 BCKDK FUS KAT8 FBXL19-AS1 ORAI3 STX1B SETD1A MIR762 BCL7C ZNF668 STX4 PRSS53 FBXL19 ZNF646
dgv35n68	Chr.16:30833730 - 31036730 on Build GRCh38	Loss	STX1B SETD1A CTF1 MIR762 BCL7C MIR762HG HSD3B7 MIR4519 STX4 FBXL19-AS1 FBXL19 ORAI3
nsv833193	Chr.16:30949475 - 31122283 on Build GRCh38	Gain+Loss	STX1B SETD1A VKORC1 LOC101928762 HSD3B7 ZNF668 BCKDK KAT8 STX4 PRSS53 ORAI3 ZNF646
nsv953802	Chr.16:30876680 - 30999279 on Build GRCh38	Deletion	STX1B SETD1A CTF1 MIR762 BCL7C MIR762HG HSD3B7 FBXL19-AS1 FBXL19 ORAI3

More Information

Additional Information:

For this assay, SNP(s) [rs116692581] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-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
beta-catenin binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K4 specific)