Hs04052488_cn

• Gene Symbol: CHRNA4
• Assay Reference Genome Location: Chr.20:63365967 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 1137
• Gene Name: cholinergic receptor nicotinic alpha 4 subunit
• Gene Aliases: BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4
• Location: Chr.20:63343310-63375392 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHRNA4	XM_017027624.1			XP_016883113.1
	XM_017027625.1			XP_016883114.1

Target Gene Details

• Entrez Gene ID: 100130587
• Gene Name: uncharacterized LOC100130587
• Gene Aliases: -
• Location: Chr.20:63359988-63371177 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130587	NR_110634.1
	AK127527.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2722915	Chr.20:63365894 - 63366454 on Build GRCh38	Deletion	CHRNA4 LOC100130587
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	MIR3196 LOC102723788 LOC107985425 YTHDF1 FLJ16779 BIRC7 PTK6 COL20A1 LOC100130587 NKAIN4 HELZ2 FNDC11 MIR4326 CHRNA4 LOC100130152 SRMS ARFGAP1 MIR124-3 PPDPF KCNQ2 EEF1A2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	MIR3196 LOC102723788 LOC107985425 YTHDF1 FLJ16779 BIRC7 LINC00659 COL20A1 GMEB2 LOC100130587 HAR1A NKAIN4 FNDC11 OGFR HAR1B SRMS GID8 MRGBP MIR124-3 SLC17A9 KCNQ2 EEF1A2 BHLHE23 LOC107985428 DPH3P1 OGFR-AS1 PTK6 HELZ2 TCFL5 MIR4326 CHRNA4 LINC01056 LOC100130152 COL9A3 LINC00029 LOC63930 ARFGAP1 PPDPF DIDO1
nsv470562	Chr.20:63362590 - 63460989 on Build GRCh38	Loss	CHRNA4 LOC100130152 LOC102723788 KCNQ2 LOC100130587

More Information

Additional Information:

For this assay, SNP(s) [rs73157403] 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 -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

action potential
response to hypoxia
DNA repair
ion transport
calcium ion transport
response to oxidative stress
signal transduction
chemical synaptic transmission
synaptic transmission, cholinergic
neuromuscular synaptic transmission
respiratory gaseous exchange
locomotory behavior
regulation of dopamine secretion
sensory perception of pain
response to nicotine
behavioral response to nicotine
exploration behavior
B cell activation
regulation of membrane potential
neurological system process
cognition
membrane depolarization
inhibitory postsynaptic potential
cation transmembrane transport

Function(s)

acetylcholine-activated cation-selective channel activity
ligand-gated ion channel activity
acetylcholine receptor activity
acetylcholine binding