Hs02538834_cn

• Gene Symbol: ASCL4
• Assay Reference Genome Location: Chr.12:107775053 on build GRCh38
• Cytoband: 12q23.3

Target Gene Details

• Entrez Gene ID: 121549
• Gene Name: achaete-scute family bHLH transcription factor 4
• Gene Aliases: HASH4, bHLHa44
• Location: Chr.12:107774385-107776644 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASCL4	NM_203436.2	1	669	NP_982260.2
	AY238895.1	1	669	AAP69222.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1038935	Chr.12:107314243 - 108077556 on Build GRCh38	Gain	BTBD11 LOC728739 PRDM4 LOC101929162 ASCL4 PWP1
nsv560091	Chr.12:107448429 - 108068129 on Build GRCh38	Gain	BTBD11 LOC728739 PRDM4 LOC101929162 ASCL4 PWP1

More Information

Additional Information:

For this assay, SNP(s) [rs75704747] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
skin development

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcription factor activity, sequence-specific DNA binding
protein binding
protein dimerization activity