Hs01193487_cn

• Gene Symbol: NHLH1
• Assay Reference Genome Location: Chr.1:160372463 on build GRCh38
• Cytoband: 1q23.2

Target Gene Details

• Entrez Gene ID: 4807
• Gene Name: nescient helix-loop-helix 1
• Gene Aliases: HEN1, NSCL, NSCL1, bHLHa35
• Location: Chr.1:160367071-160372848 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NHLH1	NM_005598.3	2	2174	NP_005589.1
	BC013789.1	2	2161	AAH13789.1
	M96739.1	2	2176

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv548056	Chr.1:160363952 - 160422364 on Build GRCh38	Loss	VANGL2 NHLH1

More Information

Additional Information:

For this assay, SNP(s) [rs114839149] 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 from RNA polymerase II promoter
central nervous system development
cell differentiation
positive regulation of transcription from RNA polymerase II promoter

Function(s)

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