CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)

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Gene: CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) Homo sapiens

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Symbol:

CHRNA3

Name:

cholinergic receptor nicotinic alpha 3 subunit

RGD ID:

732613

HGNC Page

HGNC:1957

Description:

Enables acetylcholine receptor activity and acetylcholine-gated monoatomic cation-selective channel activity. Involved in several processes, including behavioral response to nicotine; signal transduction; and synaptic transmission involved in micturition. Located in nuclear speck and plasma membrane. Part of acetylcholine-gated channel complex. Implicated in several diseases, including alcohol dependence; chronic obstructive pulmonary disease; cocaine dependence; lung cancer (multiple); and nicotine dependence. Biomarker of lung adenocarcinoma and lung small cell carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

acetylcholine receptor, nicotinic, alpha 3 (neuronal); BAIPRCK; cholinergic receptor, nicotinic alpha 3; cholinergic receptor, nicotinic, alpha 3 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 3; LNCR2; MGC104879; NACHRA3; neuronal acetylcholine receptor subunit alpha-3; neuronal nicotinic acetylcholine receptor, alpha3 subunit; PAOD2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Chrna3 (cholinergic receptor, nicotinic, alpha polypeptide 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Chrna3 (cholinergic receptor nicotinic alpha 3 subunit)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Chrna3 (cholinergic receptor nicotinic alpha 3 subunit)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)	NCBI	Ortholog
Canis lupus familiaris (dog):	CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Chrna3 (cholinergic receptor nicotinic alpha 3 subunit)	NCBI	Ortholog
Sus scrofa (pig):	CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Chrna3 (cholinergic receptor nicotinic alpha 3 subunit)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Chrna6 (cholinergic receptor, nicotinic, alpha polypeptide 6)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Chrna3 (cholinergic receptor nicotinic alpha 3 subunit)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Chrna3 (cholinergic receptor, nicotinic, alpha polypeptide 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	chrna3 (cholinergic receptor, nicotinic, alpha 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	acr-12	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	acr-2	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	acr-6	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	acr-8	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	nAChRalpha2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	nAChRbeta2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	nAChRalpha3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	nAChRalpha4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	unc-38	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	unc-63	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	lev-1	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	78,593,052 - 78,620,996 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	78,593,052 - 78,621,295 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	78,885,394 - 78,913,338 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	76,674,706 - 76,700,377 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	76,674,706 - 76,700,377	NCBI
Celera	15	55,821,707 - 55,849,902 (-)	NCBI		Celera
Cytogenetic Map	15	q25.1	NCBI
HuRef	15	55,642,483 - 55,671,504 (-)	NCBI		HuRef
CHM1_1	15	79,003,962 - 79,032,196 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	76,455,721 - 76,484,482 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

alcohol dependence (IAGP)

alcohol use disorder (EXP)

amyotrophic lateral sclerosis (IAGP)

BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (IAGP)

Bloom syndrome (IAGP)

Carbon Monoxide Poisoning (ISO)

chronic obstructive pulmonary disease (IAGP)

cocaine dependence (IAGP)

colorectal cancer (IAGP)

depressive disorder (ISO)

Experimental Seizures (ISO)

genetic disease (IAGP)

lung adenocarcinoma (IAGP,IEP)

lung cancer (IAGP)

lung carcinoma (IAGP)

Lung Neoplasms (EXP)

lung non-small cell carcinoma (IAGP,IGI)

lung small cell carcinoma (IAGP,IEP)

nicotine dependence (EXP,IAGP,IGI)

squamous cell carcinoma (IAGP)

stomach cancer (IDA)

Transplant Rejection (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-anabasine (ISO)

(S)-nicotine (EXP,ISO)

1,1-dimethyl-4-phenylpiperazinium iodide (EXP,ISO)

1,2-dichloroethane (ISO)

17alpha-ethynylestradiol (EXP)

17beta-estradiol (EXP)

17beta-estradiol 3-benzoate (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

3H-1,2-dithiole-3-thione (ISO)

4-nonylphenol (EXP)

4-octylphenol (EXP)

acetylcholine (EXP,ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

amitriptyline (ISO)

ammonium chloride (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

atracurium (EXP)

belinostat (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

butanal (EXP)

Butylbenzyl phthalate (ISO)

cadmium dichloride (ISO)

carbachol (ISO)

carbamazepine (EXP)

carbaryl (ISO)

cisatracurium (EXP)

cocaine (ISO)

cytisine (EXP,ISO)

DDE (ISO)

decabromodiphenyl ether (EXP)

diazinon (ISO)

dieldrin (ISO)

diethylstilbestrol (EXP)

dihydro-beta-erythroidine (ISO)

dopamine (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

entinostat (EXP)

epibatidine (EXP,ISO)

EPTC (ISO)

ethanol (ISO)

fenoxycarb (ISO)

fenvalerate (ISO)

folic acid (ISO)

fonofos (EXP)

genistein (ISO)

glyphosate (ISO)

Hexamethonium (ISO)

imidacloprid (EXP)

Licochalcone B (EXP)

Mecamylamine (ISO)

mercury dichloride (ISO)

methyllycaconitine (ISO)

Mivacurium (EXP)

N'-Nitrosonornicotine (EXP)

N-methyl-4-phenylpyridinium (EXP)

N-Nitrosopyrrolidine (EXP)

nickel atom (ISO)

nicotine (EXP,ISO)

pancuronium (EXP)

panobinostat (EXP)

parathion (EXP)

PCB138 (ISO)

pentanal (EXP)

phenylmercury acetate (EXP)

propanal (EXP)

resveratrol (EXP)

rocuronium (EXP)

sarin (EXP)

SB 431542 (EXP)

sunitinib (EXP)

tamoxifen (EXP)

terbufos (EXP)

Tetrachlorobisphenol A (EXP)

tetrachloroethene (EXP,ISO)

thapsigargin (EXP)

Theaflavin 3,3'-digallate (EXP)

titanium dioxide (ISO)

toluene (EXP,ISO)

trichostatin A (EXP)

triptonide (ISO)

tubocurarine (EXP,ISO)

valproic acid (EXP,ISO)

varenicline (ISO)

vecuronium bromide (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acetylcholine receptor signaling pathway (IBA,ISS)

activation of transmembrane receptor protein tyrosine kinase activity (ISO,ISS)

behavioral response to nicotine (IMP,ISO)

cell communication (IEA)

excitatory postsynaptic potential (ISO,ISS)

heart development (ISO)

locomotory behavior (ISO,ISS)

membrane depolarization (IBA)

monoatomic ion transmembrane transport (IEA)

monoatomic ion transport (IEA,NAS)

nervous system development (IMP)

presynaptic modulation of chemical synaptic transmission (ISO)

regulation of acetylcholine secretion, neurotransmission (ISO,ISS)

regulation of dendrite morphogenesis (ISO,ISS)

regulation of membrane potential (ISO,ISS)

regulation of muscle contraction (ISO)

regulation of smooth muscle contraction (ISO,ISS)

response to acetylcholine (ISS)

response to carbon monoxide (ISO)

response to nicotine (IBA,ISO)

response to xenobiotic stimulus (ISO)

signal transduction (IDA)

signaling (IEA)

synaptic transmission involved in micturition (IMP,ISO)

synaptic transmission, cholinergic (IBA,ISO,ISS)

Cellular Component

acetylcholine-gated channel complex (IBA,IDA,ISO)

cholinergic synapse (ISO)

dendrite (ISO,ISS)

dopaminergic synapse (ISO)

endoplasmic reticulum (IEA)

Golgi apparatus (IEA)

membrane (IEA,NAS)

neuron projection (IBA)

neuronal cell body (ISO,ISS)

nuclear speck (IDA)

plasma membrane (IBA,IDA,IEA,TAS)

plasma membrane raft (ISS)

postsynaptic density (ISS)

postsynaptic membrane (IEA)

postsynaptic specialization membrane (ISO)

protein-containing complex (ISO)

synapse (IBA,IEA)

Molecular Function

acetylcholine binding (IC,ISO)

acetylcholine receptor activity (IDA,ISO)

acetylcholine-gated monoatomic cation-selective channel activity (IBA,IDA,IEA,ISO,ISS,TAS)

heterocyclic compound binding (ISO)

ligand-gated monoatomic ion channel activity (TAS)

protein binding (IPI)

protein-containing complex binding (ISO)

transmembrane signaling receptor activity (IEA)

transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

acetylcholine signaling pathway via nicotinic acetylcholine receptor (TAS)

nicotine pharmacodynamics pathway (EXP)

nicotine pharmacokinetics pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Addictive nicotine use (IAGP,IGI)

Amyotrophic lateral sclerosis (IAGP)

Autosomal recessive inheritance (IAGP)

Failure to thrive (IAGP)

Gastroesophageal reflux (IAGP)

Hydronephrosis (IAGP)

Hypospadias (IAGP)

Lung adenocarcinoma (IAGP)

Neoplasm of the lung (IAGP)

Neurogenic bladder (IAGP)

Non-small cell lung carcinoma (IGI)

Orthostatic hypotension (IAGP)

Recurrent urinary tract infections (IAGP)

Slow pupillary light response (IAGP)

Squamous cell carcinoma (IAGP)

Stage 2 chronic kidney disease (IAGP)

Vesicoureteral reflux (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	In vitro and in vivo effects of an alpha3 neuronal nicotinic acetylcholine receptor antisense oligonucleotide.	Adams MR, etal., Brain Res Mol Brain Res. 2004 Oct 22;129(1-2):67-79.
2.	Mammalian nicotinic acetylcholine receptors: from structure to function.	Albuquerque EX, etal., Physiol Rev. 2009 Jan;89(1):73-120. doi: 10.1152/physrev.00015.2008.
3.	Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study.	Amos CI, etal., J Natl Cancer Inst. 2010 Aug 4;102(15):1199-205. doi: 10.1093/jnci/djq232. Epub 2010 Jun 16.
4.	Aberrant DNA methylation of cancer-associated genes in gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC-EURGAST).	Balassiano K, etal., Cancer Lett. 2011 Dec 1;311(1):85-95. doi: 10.1016/j.canlet.2011.06.038. Epub 2011 Jul 14.
5.	New associations of the genetic polymorphisms in nicotinic receptor genes with the risk of lung cancer.	Chikova A, etal., Life Sci. 2012 Nov 27;91(21-22):1103-8. doi: 10.1016/j.lfs.2011.12.023. Epub 2012 Jan 17.
6.	Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk.	Falvella FS, etal., Clin Cancer Res. 2009 Mar 1;15(5):1837-42. doi: 10.1158/1078-0432.CCR-08-2107. Epub 2009 Feb 17.
7.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
8.	Why do young women smoke? VII COMT as a risk modifying gene for Nicotine dependence - role of gene-gene interaction, personality, and environmental factors.	Greenbaum L, etal., Hum Psychopharmacol. 2010 Nov;25(7-8):536-42. doi: 10.1002/hup.1149. Epub 2010 Oct 25.
9.	Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.	Haller G, etal., Hum Mol Genet. 2012 Feb 1;21(3):647-55. doi: 10.1093/hmg/ddr498. Epub 2011 Oct 31.
10.	Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.	Haller G, etal., Hum Mol Genet. 2014 Feb 1;23(3):810-9. doi: 10.1093/hmg/ddt463. Epub 2013 Sep 20.
11.	Down-regulation of cholinergic signaling in the habenula induces anhedonia-like behavior.	Han S, etal., Sci Rep. 2017 Apr 18;7(1):900. doi: 10.1038/s41598-017-01088-6.
12.	CHRNA3 polymorphism modifies lung adenocarcinoma risk in the Chinese Han population.	He P, etal., Int J Mol Sci. 2014 Mar 28;15(4):5446-57. doi: 10.3390/ijms15045446.
13.	ASCL1 regulates the expression of the CHRNA5/A3/B4 lung cancer susceptibility locus.	Improgo MR, etal., Mol Cancer Res. 2010 Feb;8(2):194-203. doi: 10.1158/1541-7786.MCR-09-0185. Epub 2010 Feb 2.
14.	A functional polymorphism on chromosome 15q25 associated with survival of early stage non-small-cell lung cancer.	Jin G, etal., J Thorac Oncol. 2012 May;7(5):808-14. doi: 10.1097/JTO.0b013e31824c7d7c.
15.	CHRNA3 genotype, nicotine dependence, lung function and disease in the general population.	Kaur-Knudsen D, etal., Eur Respir J. 2012 Dec;40(6):1538-44. doi: 10.1183/09031936.00176811. Epub 2012 Mar 22.
16.	CHRNA3 variant for lung cancer is associated with chronic obstructive pulmonary disease in Korea.	Kim WJ, etal., Respiration. 2013;86(2):117-22. doi: 10.1159/000342976. Epub 2012 Nov 27.
17.	CHRNA5/CHRNA3 Locus Associates with Increased Mortality among Smokers.	Kupiainen H, etal., COPD. 2016 Aug;13(4):464-70. doi: 10.3109/15412555.2015.1049260. Epub 2016 Jan 11.
18.	Nicotinic cholinergic receptors in the rat retina: simple and mixed heteromeric subtypes.	Marritt AM, etal., Mol Pharmacol. 2005 Dec;68(6):1656-68. Epub 2005 Aug 29.
19.	Expression of acetylcholine receptors by experimental rat renal allografts.	Meixner M, etal., Biomed Res Int. 2014;2014:289656. doi: 10.1155/2014/289656. Epub 2014 Jul 9.
20.	The nicotinic cholinergic system is affected in rats with delayed carbon monoxide encephalopathy.	Ochi S, etal., Neurosci Lett. 2014 May 21;569:33-7. doi: 10.1016/j.neulet.2014.03.054. Epub 2014 Apr 2.
21.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
22.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
23.	CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms are associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a mexican population.	Pérez-Morales R, etal., Ann Hum Genet. 2018 Nov;82(6):415-424. doi: 10.1111/ahg.12264. Epub 2018 Jul 11.
24.	Association between CHRNA3 rs1051730 genotype and lung cancer risk in Chinese Han population: a case-control study.	Ren JH, etal., J Huazhong Univ Sci Technolog Med Sci. 2013 Dec;33(6):897-901. doi: 10.1007/s11596-013-1218-4. Epub 2013 Dec 13.
25.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
27.	A Novel Tobacco Use Phenotype Suggests the 15q25 and 19q13 Loci May be Differentially Associated With Cigarettes per Day and Tobacco-Related Problems.	Richmond-Rakerd LS, etal., Nicotine Tob Res. 2017 Apr 1;19(4):426-434. doi: 10.1093/ntr/ntw260.
28.	The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.	Saccone NL, etal., Cancer Res. 2009 Sep 1;69(17):6848-56. doi: 10.1158/0008-5472.CAN-09-0786. Epub 2009 Aug 25.
29.	Correlation between polymorphisms of nicotine acetylcholine acceptor subunit CHRNA3 and lung cancer susceptibility.	Shen B, etal., Mol Med Rep. 2012 Dec;6(6):1389-92. doi: 10.3892/mmr.2012.1101. Epub 2012 Sep 26.
30.	Study on polymorphisms in CHRNA5/CHRNA3/CHRNB4 gene cluster and the associated with the risk of non-small cell lung cancer.	Sun Y, etal., Oncotarget. 2017 Dec 20;9(2):2435-2444. doi: 10.18632/oncotarget.23459. eCollection 2018 Jan 5.
31.	Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma.	Tseng TS, etal., PLoS One. 2014 Sep 18;9(9):e107268. doi: 10.1371/journal.pone.0107268. eCollection 2014.
32.	Time-dependent changes in rat brain cholinergic receptor expression after experimental brain injury.	Verbois SL, etal., J Neurotrauma. 2002 Dec;19(12):1569-85.
33.	Relationship between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 variation and smoking behaviors and lung cancer risk.	Wassenaar CA, etal., J Natl Cancer Inst. 2011 Sep 7;103(17):1342-6. doi: 10.1093/jnci/djr237. Epub 2011 Jul 11.
34.	Genetic variants on chromosome 15q25 associated with lung cancer risk in Chinese populations.	Wu C, etal., Cancer Res. 2009 Jun 15;69(12):5065-72. doi: 10.1158/0008-5472.CAN-09-0081. Epub 2009 Jun 2.
35.	The comparative pharmacology and up-regulation of rat neuronal nicotinic receptor subtype binding sites stably expressed in transfected mammalian cells.	Xiao Y and Kellar KJ, J Pharmacol Exp Ther. 2004 Jul;310(1):98-107. Epub 2004 Mar 11.
36.	Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese.	Yang L, etal., PLoS One. 2012;7(10):e46071. doi: 10.1371/journal.pone.0046071. Epub 2012 Oct 3.

Additional References at PubMed

PMID:1572664	PMID:1689727	PMID:1725184	PMID:1989896	PMID:2004777	PMID:2336208	PMID:7490471	PMID:7850023	PMID:8878111	PMID:8889548	PMID:8906617	PMID:8987816
PMID:9009220	PMID:9387186	PMID:9624109	PMID:9804613	PMID:9921897	PMID:10095081	PMID:10336173	PMID:10771001	PMID:11118490	PMID:11450844	PMID:11606319	PMID:11771745
PMID:12214130	PMID:12477932	PMID:12663058	PMID:12912995	PMID:15489334	PMID:15494367	PMID:15681842	PMID:15716100	PMID:16091357	PMID:17344216	PMID:17373692	PMID:17504758
PMID:18163978	PMID:18227835	PMID:18385676	PMID:18385738	PMID:18385739	PMID:18414406	PMID:18519524	PMID:18618000	PMID:18647633	PMID:18759969	PMID:18780872	PMID:18957677
PMID:18978787	PMID:18978790	PMID:18996504	PMID:19005185	PMID:19010884	PMID:19029397	PMID:19059502	PMID:19132693	PMID:19156168	PMID:19247474	PMID:19259974	PMID:19300482
PMID:19429911	PMID:19506133	PMID:19628475	PMID:19628476	PMID:19641473	PMID:19654303	PMID:19671882	PMID:19696770	PMID:19733931	PMID:19834535	PMID:19836008	PMID:19859904
PMID:19955392	PMID:20007924	PMID:20043866	PMID:20068085	PMID:20173748	PMID:20201926	PMID:20234319	PMID:20393456	PMID:20395203	PMID:20418888	PMID:20418889	PMID:20418890
PMID:20426799	PMID:20438829	PMID:20485328	PMID:20564069	PMID:20584212	PMID:20587604	PMID:20631687	PMID:20643934	PMID:20656943	PMID:20685379	PMID:20712524	PMID:20725741
PMID:20734064	PMID:20736995	PMID:20808433	PMID:20840187	PMID:20886544	PMID:21081471	PMID:21168125	PMID:21228559	PMID:21248747	PMID:21385908	PMID:21436384	PMID:21486776
PMID:21511889	PMID:21536845	PMID:21559498	PMID:21593077	PMID:21623257	PMID:21646606	PMID:21690317	PMID:21748402	PMID:21765098	PMID:21810735	PMID:21858091	PMID:21873635
PMID:21946350	PMID:22017462	PMID:22024278	PMID:22042234	PMID:22080838	PMID:22101982	PMID:22223462	PMID:22241830	PMID:22274960	PMID:22336398	PMID:22356581	PMID:22382757
PMID:22459873	PMID:22461431	PMID:22701590	PMID:22837378	PMID:22914670	PMID:22956269	PMID:23022100	PMID:23029550	PMID:23061658	PMID:23143843	PMID:23251661	PMID:23255854
PMID:23284291	PMID:23458267	PMID:23604333	PMID:23626818	PMID:23689675	PMID:23692359	PMID:23701534	PMID:23710919	PMID:23729684	PMID:23844051	PMID:23884938	PMID:24113126
PMID:24375168	PMID:24535486	PMID:24588897	PMID:24621683	PMID:24719457	PMID:24750073	PMID:24906368	PMID:25006744	PMID:25051068	PMID:25056061	PMID:25072098	PMID:25101718
PMID:25241909	PMID:25270189	PMID:25288178	PMID:25293386	PMID:25297392	PMID:25384568	PMID:25399010	PMID:25471942	PMID:25474695	PMID:25656608	PMID:25874685	PMID:26002565
PMID:26010901	PMID:26265139	PMID:26527870	PMID:26689306	PMID:26801076	PMID:26831765	PMID:26942719	PMID:26997181	PMID:27072204	PMID:27127891	PMID:27302872	PMID:27344019
PMID:27758088	PMID:28191914	PMID:28474623	PMID:28514442	PMID:29422661	PMID:29609626	PMID:29688589	PMID:29879020	PMID:30453884	PMID:31362771	PMID:31402126	PMID:31588985
PMID:31599127	PMID:31708116	PMID:32980672	PMID:33578531	PMID:33583893	PMID:33947782	PMID:33961781	PMID:36078193

Genomics

Comparative Map Data

CHRNA3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	78,593,052 - 78,620,996 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	78,593,052 - 78,621,295 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	78,885,394 - 78,913,338 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	76,674,706 - 76,700,377 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	76,674,706 - 76,700,377	NCBI
Celera	15	55,821,707 - 55,849,902 (-)	NCBI		Celera
Cytogenetic Map	15	q25.1	NCBI
HuRef	15	55,642,483 - 55,671,504 (-)	NCBI		HuRef
CHM1_1	15	79,003,962 - 79,032,196 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	76,455,721 - 76,484,482 (-)	NCBI		T2T-CHM13v2.0

Chrna3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	54,917,401 - 54,933,846 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	54,917,395 - 54,933,846 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	55,010,117 - 55,026,562 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	55,010,111 - 55,026,562 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	54,859,150 - 54,874,366 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	54,809,480 - 54,824,696 (-)	NCBI		MGSCv36	mm8
Celera	9	52,254,751 - 52,269,961 (-)	NCBI		Celera
Cytogenetic Map	9	B	NCBI
cM Map	9	29.84	NCBI

Chrna3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	64,297,755 - 64,311,251 (-)	NCBI		GRCr8
mRatBN7.2	8	55,401,668 - 55,415,165 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	55,401,702 - 55,415,165 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	60,943,296 - 60,956,354 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	59,222,294 - 59,235,355 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	57,086,538 - 57,099,598 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	59,594,007 - 59,607,122 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	59,592,403 - 59,607,275 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	58,176,165 - 58,189,008 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	58,570,223 - 58,583,594 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	58,588,997 - 58,602,801 (-)	NCBI
Celera	8	54,888,972 - 54,929,562 (-)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

Chrna3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955450	977,075 - 1,011,372 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	979,630 - 1,011,316 (-)	NCBI	ChiLan1.0	ChiLan1.0

CHRNA3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	16	67,807,750 - 67,835,101 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	71,973,644 - 72,000,975 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	57,523,553 - 57,550,228 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	76,486,416 - 76,513,899 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	76,487,710 - 76,512,044 (-)	Ensembl	panpan1.1		panPan2

CHRNA3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	38,330,287 - 38,343,142 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	38,328,814 - 38,346,246 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	38,289,178 - 38,306,359 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	38,802,608 - 38,819,775 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	38,802,250 - 38,833,013 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	38,493,778 - 38,510,924 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	38,603,187 - 38,616,744 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	39,078,181 - 39,095,376 (+)	NCBI		UU_Cfam_GSD_1.0

Chrna3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	118,579,566 - 118,599,906 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	36,427,495 - 36,457,758 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	36,427,598 - 36,447,903 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CHRNA3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	47,361,899 - 47,384,303 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	47,361,710 - 47,382,743 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	52,787,929 - 52,806,220 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CHRNA3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	26	4,721,145 - 4,747,694 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	4,722,489 - 4,737,164 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	137,048,285 - 137,075,017 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Chrna3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624894	2,324,501 - 2,357,723 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624894	2,324,480 - 2,357,389 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CHRNA3
107 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=)	single nucleotide variant	Lung cancer susceptibility 2 [RCV000019055]\|Smoking as a quantitative trait locus 3 [RCV000033204]\|not provided [RCV002514114]	Chr15:78601997 [GRCh38] Chr15:78894339 [GRCh37] Chr15:15q25.1	risk factor\|benign\|drug response
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3	copy number gain	See cases [RCV000052347]	Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3	pathogenic
NM_001166694.1(CHRNA3):c.340C>T (p.Gln114Ter)	single nucleotide variant	Malignant melanoma [RCV000070905]	Chr15:78617061 [GRCh38] Chr15:78909403 [GRCh37] Chr15:76696458 [NCBI36] Chr15:15q25.1	not provided
NM_000745.3(CHRNA5):c.533C>T (p.Pro178Leu)	single nucleotide variant	Malignant melanoma [RCV000062930]	Chr15:78589924 [GRCh38] Chr15:78882266 [GRCh37] Chr15:76669321 [NCBI36] Chr15:15q25.1	not provided
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	copy number loss	See cases [RCV000137079]	Chr15:76006154..79982417 [GRCh38] Chr15:76298495..80274759 [GRCh37] Chr15:74085550..78061814 [NCBI36] Chr15:15q24.2-25.1	pathogenic\|uncertain significance
GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	copy number gain	See cases [RCV000139779]	Chr15:78198708..78912913 [GRCh38] Chr15:78491050..79205255 [GRCh37] Chr15:76278105..76992310 [NCBI36] Chr15:15q25.1	likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	copy number loss	See cases [RCV000141666]	Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
GRCh37/hg19 15q25.1(chr15:78819698-79064139)x3	copy number gain	See cases [RCV000240295]	Chr15:78819698..79064139 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.159A>G (p.Val53=)	single nucleotide variant	Urinary bladder, atony of [RCV001578888]\|not provided [RCV002569101]	Chr15:78618839 [GRCh38] Chr15:78911181 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.268-5C>T	single nucleotide variant	Urinary bladder, atony of [RCV001579080]\|not provided [RCV002573247]	Chr15:78617138 [GRCh38] Chr15:78909480 [GRCh37] Chr15:15q25.1	benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.1(chr15:78849938-79066739)x3	copy number gain	See cases [RCV000448368]	Chr15:78849938..79066739 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.*546C>T	single nucleotide variant	nicotine response - Toxicity/ADR, Metabolism/PK [RCV000417128]	Chr15:78596058 [GRCh38] Chr15:78888400 [GRCh37] Chr15:15q25.1	drug response
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)	deletion	CHRNA3-related disorder [RCV000991220]\|not provided [RCV000480331]	Chr15:78601734..78601735 [GRCh38] Chr15:78894076..78894077 [GRCh37] Chr15:15q25.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000743.5(CHRNA3):c.1472C>T (p.Thr491Ile)	single nucleotide variant	not provided [RCV000486332]	Chr15:78596650 [GRCh38] Chr15:78888992 [GRCh37] Chr15:15q25.1	uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	copy number gain	not provided [RCV000683710]	Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_000743.5(CHRNA3):c.291A>G (p.Lys97=)	single nucleotide variant	Urinary bladder, atony of [RCV001579079]\|not provided [RCV002573246]	Chr15:78617110 [GRCh38] Chr15:78909452 [GRCh37] Chr15:15q25.1	benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
NM_000743.5(CHRNA3):c.627C>A (p.Ile209=)	single nucleotide variant	not provided [RCV000960286]	Chr15:78602015 [GRCh38] Chr15:78894357 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.83-4A>G	single nucleotide variant	Urinary bladder, atony of [RCV001578889]\|not provided [RCV001762729]	Chr15:78618919 [GRCh38] Chr15:78911261 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1A>G (p.Met1Val)	single nucleotide variant	Amyotrophic lateral sclerosis [RCV001095529]	Chr15:78620794 [GRCh38] Chr15:78913136 [GRCh37] Chr15:15q25.1	likely pathogenic
NM_000743.5(CHRNA3):c.459C>T (p.Ala153=)	single nucleotide variant	Urinary bladder, atony of [RCV002479071]\|not provided [RCV000921660]	Chr15:78602183 [GRCh38] Chr15:78894525 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1112C>T (p.Pro371Leu)	single nucleotide variant	not provided [RCV000901285]	Chr15:78601530 [GRCh38] Chr15:78893872 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.268-4C>G	single nucleotide variant	not provided [RCV000921066]	Chr15:78617137 [GRCh38] Chr15:78909479 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1113C>G (p.Pro371=)	single nucleotide variant	not provided [RCV000920666]	Chr15:78601529 [GRCh38] Chr15:78893871 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1120G>A (p.Gly374Ser)	single nucleotide variant	not provided [RCV000960953]	Chr15:78601522 [GRCh38] Chr15:78893864 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.981C>T (p.Asn327=)	single nucleotide variant	not provided [RCV000916121]	Chr15:78601661 [GRCh38] Chr15:78894003 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1019C>G (p.Ser340Ter)	single nucleotide variant	Urinary bladder, atony of [RCV000993665]	Chr15:78601623 [GRCh38] Chr15:78893965 [GRCh37] Chr15:15q25.1	pathogenic
NM_000743.5(CHRNA3):c.267+2T>G	single nucleotide variant	Urinary bladder, atony of [RCV000993666]	Chr15:78618615 [GRCh38] Chr15:78910957 [GRCh37] Chr15:15q25.1	pathogenic
NM_000743.5(CHRNA3):c.725del (p.Leu242fs)	deletion	Amyotrophic lateral sclerosis [RCV001095526]	Chr15:78601917 [GRCh38] Chr15:78894259 [GRCh37] Chr15:15q25.1	likely pathogenic
NM_000743.5(CHRNA3):c.1010_1011del (p.Thr337fs)	microsatellite	Urinary bladder, atony of [RCV000993664]	Chr15:78601631..78601632 [GRCh38] Chr15:78893973..78893974 [GRCh37] Chr15:15q25.1	pathogenic
NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn)	single nucleotide variant	CHRNA3-related disorder [RCV000991221]	Chr15:78601954 [GRCh38] Chr15:78894296 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.268-64C>A	single nucleotide variant	Urinary bladder, atony of [RCV001579081]\|not provided [RCV004715524]	Chr15:78617197 [GRCh38] Chr15:78909539 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1197C>T (p.Asp399=)	single nucleotide variant	Urinary bladder, atony of [RCV002495424]\|not provided [RCV000896406]	Chr15:78601445 [GRCh38] Chr15:78893787 [GRCh37] Chr15:15q25.1	benign\|likely benign
NM_000743.5(CHRNA3):c.564T>C (p.Asp188=)	single nucleotide variant	Urinary bladder, atony of [RCV002479027]\|not provided [RCV000896407]	Chr15:78602078 [GRCh38] Chr15:78894420 [GRCh37] Chr15:15q25.1	benign\|likely benign
NM_000743.5(CHRNA3):c.1243T>G (p.Phe415Val)	single nucleotide variant	not provided [RCV000911966]	Chr15:78601399 [GRCh38] Chr15:78893741 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1097C>T (p.Ala366Val)	single nucleotide variant	Inborn genetic diseases [RCV003294679]	Chr15:78601545 [GRCh38] Chr15:78893887 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.49CTG[6] (p.Leu23del)	microsatellite	Urinary bladder, atony of [RCV001578890]\|not provided [RCV002568510]	Chr15:78620726..78620728 [GRCh38] Chr15:78913068..78913070 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg)	single nucleotide variant	Amyotrophic lateral sclerosis [RCV001095525]	Chr15:78601890 [GRCh38] Chr15:78894232 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs)	insertion	Amyotrophic lateral sclerosis [RCV001095527]	Chr15:78601933..78601934 [GRCh38] Chr15:78894275..78894276 [GRCh37] Chr15:15q25.1	likely pathogenic
NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs)	insertion	Amyotrophic lateral sclerosis [RCV001095528]	Chr15:78618636..78618637 [GRCh38] Chr15:78910978..78910979 [GRCh37] Chr15:15q25.1	likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_000743.5(CHRNA3):c.697T>C (p.Tyr233His)	single nucleotide variant	Inborn genetic diseases [RCV004610486]	Chr15:78601945 [GRCh38] Chr15:78894287 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter)	single nucleotide variant	Urinary bladder, atony of [RCV001535888]	Chr15:78601543 [GRCh38] Chr15:78893885 [GRCh37] Chr15:15q25.1	likely pathogenic
NM_000743.5(CHRNA3):c.1107G>A (p.Pro369=)	single nucleotide variant	not provided [RCV003117283]	Chr15:78601535 [GRCh38] Chr15:78893877 [GRCh37] Chr15:15q25.1	likely benign
NC_000015.9:g.(?_78857986)_(81282132_?)dup	duplication	not provided [RCV003116793]	Chr15:78857986..81282132 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.267+14C>T	single nucleotide variant	Squamous cell carcinoma [RCV003129645]	Chr15:78618603 [GRCh38] Chr15:78910945 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.378-230_378-229inv	inversion	Lung adenocarcinoma [RCV003129633]	Chr15:78602493..78602494 [GRCh38] Chr15:78894835..78894836 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.518_519del (p.Cys173fs)	deletion	Urinary bladder, atony of [RCV002463880]	Chr15:78602123..78602124 [GRCh38] Chr15:78894465..78894466 [GRCh37] Chr15:15q25.1	pathogenic
NM_000743.5(CHRNA3):c.615C>T (p.Gly205=)	single nucleotide variant	not provided [RCV002750769]	Chr15:78602027 [GRCh38] Chr15:78894369 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1347G>A (p.Lys449=)	single nucleotide variant	not provided [RCV002615614]	Chr15:78601295 [GRCh38] Chr15:78893637 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.999G>A (p.Pro333=)	single nucleotide variant	not provided [RCV003095665]	Chr15:78601643 [GRCh38] Chr15:78893985 [GRCh37] Chr15:15q25.1	likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	copy number gain	not provided [RCV002475797]	Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_000743.5(CHRNA3):c.958G>A (p.Val320Ile)	single nucleotide variant	Inborn genetic diseases [RCV002778089]	Chr15:78601684 [GRCh38] Chr15:78894026 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.957C>T (p.Ile319=)	single nucleotide variant	not provided [RCV002751140]	Chr15:78601685 [GRCh38] Chr15:78894027 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1169G>C (p.Gly390Ala)	single nucleotide variant	Inborn genetic diseases [RCV002686600]	Chr15:78601473 [GRCh38] Chr15:78893815 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.6C>T (p.Gly2=)	single nucleotide variant	not provided [RCV002614095]	Chr15:78620789 [GRCh38] Chr15:78913131 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.377+1334T>C	single nucleotide variant	not provided [RCV003076710]	Chr15:78615690 [GRCh38] Chr15:78908032 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1429C>A (p.Arg477Ser)	single nucleotide variant	Inborn genetic diseases [RCV002883664]	Chr15:78596693 [GRCh38] Chr15:78889035 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1352T>C (p.Ile451Thr)	single nucleotide variant	CHRNA3-related disorder [RCV003926729]\|not provided [RCV002592189]	Chr15:78601290 [GRCh38] Chr15:78893632 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.576C>T (p.Ile192=)	single nucleotide variant	not provided [RCV002953701]	Chr15:78602066 [GRCh38] Chr15:78894408 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.345G>A (p.Lys115=)	single nucleotide variant	not provided [RCV003035451]	Chr15:78617056 [GRCh38] Chr15:78909398 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1495del (p.Pro498_Leu499insTer)	deletion	not provided [RCV002735702]	Chr15:78596627 [GRCh38] Chr15:78888969 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1390-21_1390-18del	deletion	not provided [RCV002760607]	Chr15:78596750..78596753 [GRCh38] Chr15:78889092..78889095 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.223-14A>G	single nucleotide variant	not provided [RCV002735777]	Chr15:78618675 [GRCh38] Chr15:78911017 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.954C>T (p.Ser318=)	single nucleotide variant	not provided [RCV002949498]	Chr15:78601688 [GRCh38] Chr15:78894030 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1090G>C (p.Gly364Arg)	single nucleotide variant	Inborn genetic diseases [RCV002739394]	Chr15:78601552 [GRCh38] Chr15:78893894 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.151C>T (p.Arg51Trp)	single nucleotide variant	Inborn genetic diseases [RCV002783940]	Chr15:78618847 [GRCh38] Chr15:78911189 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.649C>T (p.His217Tyr)	single nucleotide variant	not provided [RCV002913175]	Chr15:78601993 [GRCh38] Chr15:78894335 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.554C>T (p.Ala185Val)	single nucleotide variant	not provided [RCV002999376]	Chr15:78602088 [GRCh38] Chr15:78894430 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1493C>T (p.Pro498Leu)	single nucleotide variant	Inborn genetic diseases [RCV002888651]	Chr15:78596629 [GRCh38] Chr15:78888971 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1057G>A (p.Val353Ile)	single nucleotide variant	Inborn genetic diseases [RCV002924300]	Chr15:78601585 [GRCh38] Chr15:78893927 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.110G>A (p.Arg37His)	single nucleotide variant	not provided [RCV002866142]	Chr15:78618888 [GRCh38] Chr15:78911230 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.49CTG[8] (p.Leu23_Ser24insLeu)	microsatellite	not provided [RCV002760550]	Chr15:78620725..78620726 [GRCh38] Chr15:78913067..78913068 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1390-22_1390-18del	deletion	not provided [RCV002875802]	Chr15:78596750..78596754 [GRCh38] Chr15:78889092..78889096 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1459T>A (p.Cys487Ser)	single nucleotide variant	not provided [RCV003056223]	Chr15:78596663 [GRCh38] Chr15:78889005 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.50T>G (p.Leu17Arg)	single nucleotide variant	not provided [RCV002765888]	Chr15:78620745 [GRCh38] Chr15:78913087 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.49CTG[9] (p.Leu23_Ser24insLeuLeu)	microsatellite	not provided [RCV002740753]	Chr15:78620725..78620726 [GRCh38] Chr15:78913067..78913068 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.763A>G (p.Ile255Val)	single nucleotide variant	not provided [RCV002741458]	Chr15:78601879 [GRCh38] Chr15:78894221 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.198G>A (p.Val66=)	single nucleotide variant	not provided [RCV002632794]	Chr15:78618800 [GRCh38] Chr15:78911142 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1478G>C (p.Gly493Ala)	single nucleotide variant	Inborn genetic diseases [RCV002714101]	Chr15:78596644 [GRCh38] Chr15:78888986 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1163C>T (p.Ser388Phe)	single nucleotide variant	not provided [RCV002966208]	Chr15:78601479 [GRCh38] Chr15:78893821 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.377+8G>C	single nucleotide variant	not provided [RCV002899794]	Chr15:78617016 [GRCh38] Chr15:78909358 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1351_1353del (p.Ile451del)	deletion	not provided [RCV002627835]	Chr15:78601289..78601291 [GRCh38] Chr15:78893631..78893633 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1259C>T (p.Thr420Met)	single nucleotide variant	not provided [RCV003009054]	Chr15:78601383 [GRCh38] Chr15:78893725 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1488G>A (p.Leu496=)	single nucleotide variant	not provided [RCV002633208]	Chr15:78596634 [GRCh38] Chr15:78888976 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.82+11A>G	single nucleotide variant	not provided [RCV002613334]	Chr15:78620702 [GRCh38] Chr15:78913044 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.1001C>A (p.Thr334Lys)	single nucleotide variant	Inborn genetic diseases [RCV003269404]\|not provided [RCV003051243]	Chr15:78601641 [GRCh38] Chr15:78893983 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.471C>T (p.Ser157=)	single nucleotide variant	not provided [RCV003073058]	Chr15:78602171 [GRCh38] Chr15:78894513 [GRCh37] Chr15:15q25.1	likely benign
NM_000745.4(CHRNA5):c.*747T>C	single nucleotide variant	Squamous cell carcinoma [RCV003129697]	Chr15:78594000 [GRCh38] Chr15:78886342 [GRCh37] Chr15:15q25.1	uncertain significance
NM_001166694.2(CHRNA3):c.1390-614A>G	single nucleotide variant	Lung adenocarcinoma [RCV003129695]	Chr15:78593805 [GRCh38] Chr15:78886147 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.653A>T (p.Asp218Val)	single nucleotide variant	Inborn genetic diseases [RCV003215969]	Chr15:78601989 [GRCh38] Chr15:78894331 [GRCh37] Chr15:15q25.1	uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	copy number gain	not provided [RCV003222839]	Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1	pathogenic
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	copy number gain	See cases [RCV003329502]	Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3	pathogenic
NM_000745.4(CHRNA5):c.1312G>C (p.Val438Leu)	single nucleotide variant	not specified [RCV004345284]	Chr15:78593158 [GRCh38] Chr15:78885500 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1430G>A (p.Arg477His)	single nucleotide variant	Inborn genetic diseases [RCV003371738]	Chr15:78596692 [GRCh38] Chr15:78889034 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.936G>A (p.Met312Ile)	single nucleotide variant	not provided [RCV003400969]	Chr15:78601706 [GRCh38] Chr15:78894048 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.87C>T (p.Ala29=)	single nucleotide variant	not provided [RCV003544810]	Chr15:78618911 [GRCh38] Chr15:78911253 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.378-18C>A	single nucleotide variant	not provided [RCV003664647]	Chr15:78602282 [GRCh38] Chr15:78894624 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.807C>T (p.Cys269=)	single nucleotide variant	not provided [RCV003698252]	Chr15:78601835 [GRCh38] Chr15:78894177 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1383C>T (p.Ala461=)	single nucleotide variant	not provided [RCV003561647]	Chr15:78601259 [GRCh38] Chr15:78893601 [GRCh37] Chr15:15q25.1	benign
NM_000743.5(CHRNA3):c.231A>T (p.Val77=)	single nucleotide variant	not provided [RCV003663801]	Chr15:78618653 [GRCh38] Chr15:78910995 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.1332C>T (p.Ala444=)	single nucleotide variant	not provided [RCV003871381]	Chr15:78601310 [GRCh38] Chr15:78893652 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.867G>A (p.Val289=)	single nucleotide variant	not provided [RCV003721689]	Chr15:78601775 [GRCh38] Chr15:78894117 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.972C>T (p.Phe324=)	single nucleotide variant	not provided [RCV003720129]	Chr15:78601670 [GRCh38] Chr15:78894012 [GRCh37] Chr15:15q25.1	likely benign
GRCh37/hg19 15q25.1(chr15:78854250-79085390)x3	copy number gain	not specified [RCV003987109]	Chr15:78854250..79085390 [GRCh37] Chr15:15q25.1	uncertain significance
GRCh37/hg19 15q25.1(chr15:78854250-79045089)x3	copy number gain	not specified [RCV003987116]	Chr15:78854250..79045089 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.299C>T (p.Pro100Leu)	single nucleotide variant	Inborn genetic diseases [RCV004441476]	Chr15:78617102 [GRCh38] Chr15:78909444 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.283A>G (p.Lys95Glu)	single nucleotide variant	Inborn genetic diseases [RCV004441475]	Chr15:78617118 [GRCh38] Chr15:78909460 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.577G>A (p.Gly193Ser)	single nucleotide variant	Inborn genetic diseases [RCV004441477]	Chr15:78602065 [GRCh38] Chr15:78894407 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000745.4(CHRNA5):c.1389T>G (p.Ile463Met)	single nucleotide variant	not specified [RCV004610491]	Chr15:78593235 [GRCh38] Chr15:78885577 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.1150A>G (p.Ser384Gly)	single nucleotide variant	Inborn genetic diseases [RCV004610485]	Chr15:78601492 [GRCh38] Chr15:78893834 [GRCh37] Chr15:15q25.1	uncertain significance
NM_000743.5(CHRNA3):c.49CTG[5] (p.Leu22_Leu23del)	microsatellite	CHRNA3-related disorder [RCV004735176]	Chr15:78620726..78620731 [GRCh38] Chr15:78913068..78913073 [GRCh37] Chr15:15q25.1	likely benign
NM_000743.5(CHRNA3):c.518dup (p.Cys173fs)	duplication	CHRNA3-related disorder [RCV004724641]	Chr15:78602123..78602124 [GRCh38] Chr15:78894465..78894466 [GRCh37] Chr15:15q25.1	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1746
Count of miRNA genes:	900
Interacting mature miRNAs:	1046
Transcripts:	ENST00000326828, ENST00000348639, ENST00000558903, ENST00000559002, ENST00000559080, ENST00000559658, ENST00000559941, ENST00000561128
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407056194	GWAS705170_H	smoking status measurement, chronic obstructive pulmonary disease QTL GWAS705170 (human)		3e-25	smoking status measurement, chronic obstructive pulmonary disease		15	78603787	78603788	Human
406954051	GWAS603027_H	forced expiratory volume, response to bronchodilator QTL GWAS603027 (human)		0.0000002	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78616728	78616729	Human
407160646	GWAS809622_H	FEV/FVC ratio, response to bronchodilator QTL GWAS809622 (human)		5e-09	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78617916	78617917	Human
407028807	GWAS677783_H	pulmonary function measurement, forced expiratory volume, smoking behaviour measurement QTL GWAS677783 (human)		0.0000007	pulmonary function measurement, forced expiratory volume, smoking behaviour measurement	forced expiratory volume (CMO:0000254)	15	78618839	78618840	Human
407160642	GWAS809618_H	FEV/FVC ratio, response to bronchodilator QTL GWAS809618 (human)		9e-09	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78620601	78620602	Human
407165517	GWAS814493_H	FEV/FVC ratio, response to bronchodilator QTL GWAS814493 (human)		0.0000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606661	78606662	Human
407163470	GWAS812446_H	FEV/FVC ratio, response to bronchodilator QTL GWAS812446 (human)		2e-08	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606871	78606872	Human
407121999	GWAS770975_H	cigarettes per day measurement QTL GWAS770975 (human)		2e-58	cigarettes per day measurement		15	78616223	78616224	Human
407088718	GWAS737694_H	cigarettes per day measurement QTL GWAS737694 (human)		2e-69	cigarettes per day measurement		15	78604205	78604206	Human
407088716	GWAS737692_H	cigarettes per day measurement QTL GWAS737692 (human)		6e-121	cigarettes per day measurement		15	78601997	78601998	Human
406954067	GWAS603043_H	forced expiratory volume, response to bronchodilator QTL GWAS603043 (human)		9e-08	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78599285	78599286	Human
406954073	GWAS603049_H	forced expiratory volume, response to bronchodilator QTL GWAS603049 (human)		0.0000001	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78615690	78615691	Human
406977881	GWAS626857_H	bipolar disorder QTL GWAS626857 (human)		3e-08	bipolar disorder		15	78616223	78616224	Human
406892122	GWAS541098_H	FEV/FVC ratio QTL GWAS541098 (human)		1e-14	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606661	78606662	Human
406954075	GWAS603051_H	forced expiratory volume, response to bronchodilator QTL GWAS603051 (human)		0.0000001	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78615064	78615065	Human
407212638	GWAS861614_H	chronic obstructive pulmonary disease QTL GWAS861614 (human)		5e-28	chronic obstructive pulmonary disease		15	78603787	78603788	Human
406954074	GWAS603050_H	forced expiratory volume, response to bronchodilator QTL GWAS603050 (human)		0.0000001	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78615517	78615518	Human
407164767	GWAS813743_H	FEV/FVC ratio, response to bronchodilator QTL GWAS813743 (human)		0.000003	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618839	78618840	Human
406954076	GWAS603052_H	forced expiratory volume, response to bronchodilator QTL GWAS603052 (human)		0.0000001	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78615314	78615315	Human
407251800	GWAS900776_H	schizophrenia, intelligence, self reported educational attainment QTL GWAS900776 (human)		5e-12	schizophrenia, intelligence, self reported educational attainment		15	78617925	78617926	Human
406978653	GWAS627629_H	schizophrenia QTL GWAS627629 (human)		1e-12	schizophrenia		15	78602417	78602418	Human
407001954	GWAS650930_H	lung carcinoma QTL GWAS650930 (human)		3e-49	lung carcinoma		15	78601997	78601998	Human
407166308	GWAS815284_H	FEV/FVC ratio, response to bronchodilator QTL GWAS815284 (human)		0.0000003	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78619330	78619331	Human
407166054	GWAS815030_H	FEV/FVC ratio, response to bronchodilator QTL GWAS815030 (human)		0.0000002	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78601997	78601998	Human
407024480	GWAS673456_H	pulmonary function measurement, forced expiratory volume QTL GWAS673456 (human)		0.0000005	pulmonary function measurement, forced expiratory volume	forced expiratory volume (CMO:0000254)	15	78606381	78606382	Human
407105383	GWAS754359_H	FEV/FVC ratio, response to bronchodilator QTL GWAS754359 (human)		2e-08	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78604205	78604206	Human
407163232	GWAS812208_H	FEV/FVC ratio, response to bronchodilator QTL GWAS812208 (human)		9e-12	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618839	78618840	Human
407166049	GWAS815025_H	FEV/FVC ratio, response to bronchodilator QTL GWAS815025 (human)		0.0000002	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78608566	78608567	Human
407108710	GWAS757686_H	FEV/FVC ratio, response to bronchodilator QTL GWAS757686 (human)		0.0000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618120	78618121	Human
406972774	GWAS621750_H	forced expiratory volume, response to bronchodilator QTL GWAS621750 (human)		3e-16	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78608359	78608360	Human
406976102	GWAS625078_H	autism spectrum disorder, schizophrenia QTL GWAS625078 (human)		2e-08	autism spectrum disorder, schizophrenia		15	78615394	78615395	Human
407212898	GWAS861874_H	chronic obstructive pulmonary disease QTL GWAS861874 (human)		3e-08	chronic obstructive pulmonary disease		15	78618839	78618840	Human
407140451	GWAS789427_H	forced expiratory volume, response to bronchodilator QTL GWAS789427 (human)		0.000005	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78619330	78619331	Human
407268460	GWAS917436_H	peripheral arterial disease QTL GWAS917436 (human)		9e-09	peripheral arterial disease		15	78601997	78601998	Human
407166312	GWAS815288_H	FEV/FVC ratio, response to bronchodilator QTL GWAS815288 (human)		0.0000004	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78594605	78594606	Human
407166313	GWAS815289_H	FEV/FVC ratio, response to bronchodilator QTL GWAS815289 (human)		0.0000005	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78593856	78593857	Human
407140457	GWAS789433_H	forced expiratory volume, response to bronchodilator QTL GWAS789433 (human)		0.000005	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78606590	78606591	Human
406928238	GWAS577214_H	cigarettes per day measurement QTL GWAS577214 (human)		5e-22	cigarettes per day measurement		15	78604205	78604206	Human
406977393	GWAS626369_H	forced expiratory volume, response to bronchodilator QTL GWAS626369 (human)		7e-08	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78615668	78615669	Human
406973808	GWAS622784_H	forced expiratory volume, response to bronchodilator QTL GWAS622784 (human)		0.0000007	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78608567	78608568	Human
406977392	GWAS626368_H	forced expiratory volume, response to bronchodilator QTL GWAS626368 (human)		6e-08	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78615812	78615813	Human
407218800	GWAS867776_H	schizophrenia QTL GWAS867776 (human)		1e-12	schizophrenia		15	78616223	78616224	Human
407104379	GWAS753355_H	FEV/FVC ratio, response to bronchodilator QTL GWAS753355 (human)		2e-14	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78619330	78619331	Human
407296639	GWAS945615_H	schizophrenia QTL GWAS945615 (human)		6e-13	schizophrenia		15	78616223	78616224	Human
407067000	GWAS715976_H	schizophrenia, anorexia nervosa QTL GWAS715976 (human)		4e-08	schizophrenia, anorexia nervosa		15	78616728	78616729	Human
407106424	GWAS755400_H	FEV/FVC ratio, response to bronchodilator QTL GWAS755400 (human)		0.000002	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78616728	78616729	Human
407102334	GWAS751310_H	FEV/FVC ratio, response to bronchodilator QTL GWAS751310 (human)		3e-15	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78594605	78594606	Human
407100030	GWAS749006_H	FEV/FVC ratio, response to bronchodilator QTL GWAS749006 (human)		1e-19	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606661	78606662	Human
406968956	GWAS617932_H	forced expiratory volume, response to bronchodilator QTL GWAS617932 (human)		8e-14	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78619330	78619331	Human
407167355	GWAS816331_H	FEV/FVC ratio, response to bronchodilator QTL GWAS816331 (human)		0.0000008	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606381	78606382	Human
407046524	GWAS695500_H	velopharyngeal dysfunction QTL GWAS695500 (human)		0.000001	velopharyngeal dysfunction		15	78615003	78615004	Human
407174918	GWAS823894_H	lung carcinoma QTL GWAS823894 (human)		6e-09	lung carcinoma		15	78606381	78606382	Human
406969859	GWAS618835_H	forced expiratory volume, response to bronchodilator QTL GWAS618835 (human)		6e-17	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78608566	78608567	Human
406969858	GWAS618834_H	forced expiratory volume, response to bronchodilator QTL GWAS618834 (human)		5e-18	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78606661	78606662	Human
407162887	GWAS811863_H	FEV/FVC ratio, response to bronchodilator QTL GWAS811863 (human)		0.0000003	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78615812	78615813	Human
407029255	GWAS678231_H	smoking behavior QTL GWAS678231 (human)		2e-66	smoking behavior		15	78601997	78601998	Human
407161869	GWAS810845_H	FEV/FVC ratio, response to bronchodilator QTL GWAS810845 (human)		0.0000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618121	78618122	Human
407180303	GWAS829279_H	smoking behaviour measurement QTL GWAS829279 (human)		2e-15	smoking behaviour measurement		15	78593856	78593857	Human
406969866	GWAS618842_H	forced expiratory volume, response to bronchodilator QTL GWAS618842 (human)		1e-17	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78606381	78606382	Human
407163400	GWAS812376_H	FEV/FVC ratio, response to bronchodilator QTL GWAS812376 (human)		0.000004	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78600319	78600320	Human
407102989	GWAS751965_H	FEV/FVC ratio, response to bronchodilator QTL GWAS751965 (human)		1e-16	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78601997	78601998	Human
406975246	GWAS624222_H	autism spectrum disorder, schizophrenia QTL GWAS624222 (human)		5e-10	autism spectrum disorder, schizophrenia		15	78615690	78615691	Human
407125012	GWAS773988_H	schizophrenia QTL GWAS773988 (human)		2e-13	schizophrenia		15	78615690	78615691	Human
407301399	GWAS950375_H	lung carcinoma QTL GWAS950375 (human)		3e-52	lung carcinoma		15	78601997	78601998	Human
407052305	GWAS701281_H	lung carcinoma QTL GWAS701281 (human)		8e-12	lung carcinoma		15	78615690	78615691	Human
406977304	GWAS626280_H	cigarettes per day measurement QTL GWAS626280 (human)		3e-42	cigarettes per day measurement		15	78615394	78615395	Human
406990109	GWAS639085_H	cigarettes per day measurement QTL GWAS639085 (human)		1e-15	cigarettes per day measurement		15	78600171	78600172	Human
406963230	GWAS612206_H	chronic obstructive pulmonary disease QTL GWAS612206 (human)		0.0000006	serum albumin measurement	serum albumin level (CMO:0000550)	15	78606381	78606382	Human
407046947	GWAS695923_H	energy expenditure QTL GWAS695923 (human)		6e-08	energy expenditure trait (VT:0005450)		15	78618839	78618840	Human
407161383	GWAS810359_H	FEV/FVC ratio, response to bronchodilator QTL GWAS810359 (human)		0.000002	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78617925	78617926	Human
407118115	GWAS767091_H	cigarettes per day measurement QTL GWAS767091 (human)		4e-167	cigarettes per day measurement		15	78607377	78607378	Human
407177506	GWAS826482_H	FEV/FVC ratio QTL GWAS826482 (human)		3e-11	pulmonary function measurement	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618839	78618840	Human
407008042	GWAS657018_H	diffusing capacity of the lung for carbon monoxide QTL GWAS657018 (human)		3e-10	diffusing capacity of the lung for carbon monoxide		15	78608305	78608306	Human
406976553	GWAS625529_H	forced expiratory volume, response to bronchodilator QTL GWAS625529 (human)		1e-13	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78618839	78618840	Human
406928173	GWAS577149_H	cigarettes per day measurement QTL GWAS577149 (human)		3e-40	cigarettes per day measurement		15	78603787	78603788	Human
406953263	GWAS602239_H	emphysema imaging measurement QTL GWAS602239 (human)		2e-09	emphysema imaging measurement		15	78606590	78606591	Human
406978353	GWAS627329_H	FEV/FVC ratio, pulmonary function measurement, smoking behaviour measurement QTL GWAS627329 (human)		9e-08	FEV/FVC ratio, pulmonary function measurement, smoking behaviour measurement	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618839	78618840	Human
407106103	GWAS755079_H	FEV/FVC ratio, response to bronchodilator QTL GWAS755079 (human)		0.000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78615517	78615518	Human
407078197	GWAS727173_H	lung carcinoma, family history of lung cancer QTL GWAS727173 (human)		4e-13	lung carcinoma, family history of lung cancer		15	78618839	78618840	Human
406948667	GWAS597643_H	chronic obstructive pulmonary disease, chronic bronchitis QTL GWAS597643 (human)		0.000003	chronic obstructive pulmonary disease, chronic bronchitis		15	78606381	78606382	Human
407106105	GWAS755081_H	FEV/FVC ratio, response to bronchodilator QTL GWAS755081 (human)		0.000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78615690	78615691	Human
407158334	GWAS807310_H	schizophrenia QTL GWAS807310 (human)		2e-10	schizophrenia		15	78617916	78617917	Human
406977338	GWAS626314_H	forced expiratory volume, response to bronchodilator QTL GWAS626314 (human)		0.0000002	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78616223	78616224	Human
406948669	GWAS597645_H	chronic obstructive pulmonary disease, chronic bronchitis QTL GWAS597645 (human)		2e-08	carbon monoxide exhalation measurement		15	78606381	78606382	Human
407106110	GWAS755086_H	FEV/FVC ratio, response to bronchodilator QTL GWAS755086 (human)		0.000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78615314	78615315	Human
406970561	GWAS619537_H	forced expiratory volume, response to bronchodilator QTL GWAS619537 (human)		6e-15	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78593856	78593857	Human
406963651	GWAS612627_H	forced expiratory volume, response to bronchodilator QTL GWAS612627 (human)		0.000003	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78602417	78602418	Human
407024838	GWAS673814_H	smoking behavior QTL GWAS673814 (human)		3e-73	smoking behavior		15	78601997	78601998	Human
406888645	GWAS537621_H	forced expiratory volume QTL GWAS537621 (human)		4e-11	forced expiratory volume	forced expiratory volume (CMO:0000254)	15	78618839	78618840	Human
406888646	GWAS537622_H	forced expiratory volume QTL GWAS537622 (human)		2e-10	forced expiratory volume	forced expiratory volume (CMO:0000254)	15	78606381	78606382	Human
407134402	GWAS783378_H	schizophrenia QTL GWAS783378 (human)		1e-12	schizophrenia		15	78615690	78615691	Human
406888648	GWAS537624_H	forced expiratory volume QTL GWAS537624 (human)		2e-09	forced expiratory volume	forced expiratory volume (CMO:0000254)	15	78601997	78601998	Human
406992074	GWAS641050_H	cigarettes per day measurement QTL GWAS641050 (human)		4e-10	cigarettes per day measurement		15	78606381	78606382	Human
406992075	GWAS641051_H	cigarettes per day measurement QTL GWAS641051 (human)		2e-20	cigarettes per day measurement		15	78618839	78618840	Human
407170766	GWAS819742_H	FEV/FVC ratio, response to bronchodilator QTL GWAS819742 (human)		0.0000004	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78603787	78603788	Human
407169225	GWAS818201_H	FEV/FVC ratio, response to bronchodilator QTL GWAS818201 (human)		0.0000005	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78608359	78608360	Human
407184340	GWAS833316_H	chronic bronchitis QTL GWAS833316 (human)		2e-16	chronic bronchitis		15	78606381	78606382	Human
407163603	GWAS812579_H	FEV/FVC ratio, response to bronchodilator QTL GWAS812579 (human)		0.0000008	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78615668	78615669	Human
406963929	GWAS612905_H	forced expiratory volume, response to bronchodilator QTL GWAS612905 (human)		5e-10	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78617916	78617917	Human
407102681	GWAS751657_H	FEV/FVC ratio, response to bronchodilator QTL GWAS751657 (human)		6e-18	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606381	78606382	Human
406890973	GWAS539949_H	FEV/FVC ratio QTL GWAS539949 (human)		0.000002	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606661	78606662	Human
406963932	GWAS612908_H	forced expiratory volume, response to bronchodilator QTL GWAS612908 (human)		5e-08	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78617925	78617926	Human
407263704	GWAS912680_H	schizophrenia QTL GWAS912680 (human)		3e-12	schizophrenia		15	78602417	78602418	Human
407161818	GWAS810794_H	FEV/FVC ratio, response to bronchodilator QTL GWAS810794 (human)		2e-19	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606590	78606591	Human
407234789	GWAS883765_H	emphysema pattern measurement QTL GWAS883765 (human)		1e-14	emphysema pattern measurement		15	78608359	78608360	Human
407055584	GWAS704560_H	smoking status measurement, chronic obstructive pulmonary disease QTL GWAS704560 (human)		8e-24	smoking status measurement, chronic obstructive pulmonary disease		15	78618839	78618840	Human
407162082	GWAS811058_H	FEV/FVC ratio, response to bronchodilator QTL GWAS811058 (human)		0.000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78616223	78616224	Human
407161827	GWAS810803_H	FEV/FVC ratio, response to bronchodilator QTL GWAS810803 (human)		0.000006	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606661	78606662	Human
406953961	GWAS602937_H	forced expiratory volume, response to bronchodilator QTL GWAS602937 (human)		0.0000004	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78600319	78600320	Human
406964971	GWAS613947_H	forced expiratory volume, response to bronchodilator QTL GWAS613947 (human)		6e-10	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78611645	78611646	Human
407234792	GWAS883768_H	emphysema pattern measurement QTL GWAS883768 (human)		2e-17	emphysema pattern measurement		15	78606381	78606382	Human
407160554	GWAS809530_H	FEV/FVC ratio, response to bronchodilator QTL GWAS809530 (human)		8e-17	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78608359	78608360	Human
406964975	GWAS613951_H	forced expiratory volume, response to bronchodilator QTL GWAS613951 (human)		9e-10	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78620601	78620602	Human
407160564	GWAS809540_H	FEV/FVC ratio, response to bronchodilator QTL GWAS809540 (human)		2e-16	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78613835	78613836	Human
406964979	GWAS613955_H	forced expiratory volume, response to bronchodilator QTL GWAS613955 (human)		3e-14	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78603787	78603788	Human
407121136	GWAS770112_H	cigarettes per day measurement QTL GWAS770112 (human)		2e-17	cigarettes per day measurement		15	78613835	78613836	Human
407171312	GWAS820288_H	FEV/FVC ratio QTL GWAS820288 (human)		2e-11	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78618839	78618840	Human
407171313	GWAS820289_H	FEV/FVC ratio QTL GWAS820289 (human)		1e-11	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606381	78606382	Human
407211248	GWAS860224_H	chronic obstructive pulmonary disease QTL GWAS860224 (human)		7e-20	chronic obstructive pulmonary disease		15	78618839	78618840	Human
407121138	GWAS770114_H	cigarettes per day measurement QTL GWAS770114 (human)		2e-10	cigarettes per day measurement		15	78618839	78618840	Human
407023861	GWAS672837_H	lung carcinoma QTL GWAS672837 (human)		1e-15	lung carcinoma		15	78601997	78601998	Human
407171315	GWAS820291_H	FEV/FVC ratio QTL GWAS820291 (human)		9e-11	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78601997	78601998	Human
407291889	GWAS940865_H	alcohol consumption measurement QTL GWAS940865 (human)		1e-10	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	15	78618121	78618122	Human
407268349	GWAS917325_H	peripheral arterial disease QTL GWAS917325 (human)		1e-08	peripheral arterial disease		15	78601997	78601998	Human
406970621	GWAS619597_H	forced expiratory volume, response to bronchodilator QTL GWAS619597 (human)		2e-15	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78601997	78601998	Human
407268347	GWAS917323_H	peripheral arterial disease QTL GWAS917323 (human)		9e-10	peripheral arterial disease		15	78599285	78599286	Human
407135738	GWAS784714_H	schizophrenia QTL GWAS784714 (human)		3e-12	schizophrenia		15	78615812	78615813	Human
407066499	GWAS715475_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS715475 (human)		6e-12	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa		15	78616223	78616224	Human
407327878	GWAS976854_H	diet measurement QTL GWAS976854 (human)		5e-09	diet measurement	food intake measurement (CMO:0000772)	15	78601997	78601998	Human
407102336	GWAS751312_H	FEV/FVC ratio, response to bronchodilator QTL GWAS751312 (human)		3e-15	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78593856	78593857	Human
407067269	GWAS716245_H	parental longevity QTL GWAS716245 (human)		0.0000002	parental longevity		15	78603787	78603788	Human
406965126	GWAS614102_H	forced expiratory volume, response to bronchodilator QTL GWAS614102 (human)		4e-10	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78606871	78606872	Human
407299713	GWAS948689_H	schizophrenia QTL GWAS948689 (human)		4e-10	schizophrenia		15	78617916	78617917	Human
407161230	GWAS810206_H	forced expiratory volume, response to bronchodilator QTL GWAS810206 (human)		5e-15	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78594605	78594606	Human
406897292	GWAS546268_H	smoking behaviour measurement QTL GWAS546268 (human)		2e-08	smoking behaviour measurement		15	78601997	78601998	Human
406904717	GWAS553693_H	squamous cell lung carcinoma QTL GWAS553693 (human)		3e-41	squamous cell lung carcinoma		15	78618839	78618840	Human
407214218	GWAS863194_H	chronic obstructive pulmonary disease QTL GWAS863194 (human)		7e-60	chronic obstructive pulmonary disease		15	78618839	78618840	Human
407101324	GWAS750300_H	age at menarche QTL GWAS750300 (human)		0.0000001	age at menarche		15	78619330	78619331	Human
406919057	GWAS568033_H	bipolar disorder QTL GWAS568033 (human)		8e-09	bipolar disorder		15	78616223	78616224	Human
407067026	GWAS716002_H	parental longevity QTL GWAS716002 (human)		1e-26	parental longevity		15	78603787	78603788	Human
407067280	GWAS716256_H	parental longevity QTL GWAS716256 (human)		2e-31	parental longevity		15	78603787	78603788	Human
407152528	GWAS801504_H	schizophrenia QTL GWAS801504 (human)		3e-12	schizophrenia		15	78616223	78616224	Human
406972567	GWAS621543_H	forced expiratory volume, response to bronchodilator QTL GWAS621543 (human)		2e-15	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78613835	78613836	Human
406954138	GWAS603114_H	forced expiratory volume, response to bronchodilator QTL GWAS603114 (human)		0.0000002	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78618120	78618121	Human
406972573	GWAS621549_H	forced expiratory volume, response to bronchodilator QTL GWAS621549 (human)		2e-17	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78606590	78606591	Human
407117210	GWAS766186_H	smoking cessation QTL GWAS766186 (human)		1e-41	smoking cessation		15	78604205	78604206	Human
407105437	GWAS754413_H	FEV/FVC ratio, response to bronchodilator QTL GWAS754413 (human)		0.000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78615064	78615065	Human
407025317	GWAS674293_H	smoking behavior QTL GWAS674293 (human)		2e-69	smoking behavior		15	78601997	78601998	Human
407055786	GWAS704762_H	chronic obstructive pulmonary disease QTL GWAS704762 (human)		3e-26	chronic obstructive pulmonary disease		15	78606590	78606591	Human
407162536	GWAS811512_H	FEV/FVC ratio, response to bronchodilator QTL GWAS811512 (human)		0.0000001	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78611645	78611646	Human
406969263	GWAS618239_H	forced expiratory volume, response to bronchodilator QTL GWAS618239 (human)		5e-10	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78604205	78604206	Human
407052717	GWAS701693_H	chronic obstructive pulmonary disease QTL GWAS701693 (human)		2e-08	chronic obstructive pulmonary disease		15	78618839	78618840	Human
406969262	GWAS618238_H	forced expiratory volume, response to bronchodilator QTL GWAS618238 (human)		4e-10	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78607377	78607378	Human
407172276	GWAS821252_H	FEV/FVC ratio, response to bronchodilator QTL GWAS821252 (human)		0.0000003	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78613835	78613836	Human
406973875	GWAS622851_H	forced expiratory volume, response to bronchodilator QTL GWAS622851 (human)		0.0000002	forced expiratory volume, response to bronchodilator	forced expiratory volume (CMO:0000254)	15	78618121	78618122	Human
407100343	GWAS749319_H	FEV/FVC ratio, response to bronchodilator QTL GWAS749319 (human)		3e-18	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78608566	78608567	Human
407052727	GWAS701703_H	smoking status measurement, chronic obstructive pulmonary disease QTL GWAS701703 (human)		2e-09	smoking status measurement, chronic obstructive pulmonary disease		15	78620601	78620602	Human
406961844	GWAS610820_H	chronic obstructive pulmonary disease QTL GWAS610820 (human)		6e-14	chronic obstructive pulmonary disease		15	78606381	78606382	Human
407169203	GWAS818179_H	FEV/FVC ratio, response to bronchodilator QTL GWAS818179 (human)		0.0000002	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78606590	78606591	Human
406961851	GWAS610827_H	chronic obstructive pulmonary disease QTL GWAS610827 (human)		3e-16	chronic obstructive pulmonary disease		15	78606381	78606382	Human
407105726	GWAS754702_H	FEV/FVC ratio, response to bronchodilator QTL GWAS754702 (human)		2e-08	FEV/FVC ratio, response to bronchodilator	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	15	78607377	78607378	Human
407020732	GWAS669708_H	lung adenocarcinoma QTL GWAS669708 (human)		2e-51	lung adenocarcinoma		15	78601997	78601998	Human
407020477	GWAS669453_H	nicotine dependence QTL GWAS669453 (human)		6e-20	nicotine dependence		15	78601997	78601998	Human

Markers in Region

SHGC-36097

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,887,664 - 78,887,761	UniSTS	GRCh37
Build 36	15	76,674,719 - 76,674,816	RGD	NCBI36
Celera	15	55,823,977 - 55,824,078	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	55,644,753 - 55,644,854	UniSTS
Stanford-G3 RH Map	15	2795.0	UniSTS
NCBI RH Map	15	508.7	UniSTS
GeneMap99-G3 RH Map	15	2790.0	UniSTS

RH98633

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,914,657 - 78,914,798	UniSTS	GRCh37
Build 36	15	76,701,712 - 76,701,853	RGD	NCBI36
Celera	15	55,850,922 - 55,851,063	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	55,672,524 - 55,672,665	UniSTS
GeneMap99-GB4 RH Map	15	273.83	UniSTS

RH121399

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,911,687 - 78,911,998	UniSTS	GRCh37
Build 36	15	76,698,742 - 76,699,053	RGD	NCBI36
Celera	15	55,847,955 - 55,848,266	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	55,669,565 - 55,669,876	UniSTS
TNG Radiation Hybrid Map	15	30760.0	UniSTS

CHRNA3_541

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,887,550 - 78,888,396	UniSTS	GRCh37
Build 36	15	76,674,605 - 76,675,451	RGD	NCBI36
Celera	15	55,823,863 - 55,824,713	RGD
HuRef	15	55,644,639 - 55,645,489	UniSTS

CHRNA5_1914

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,885,703 - 78,886,553	UniSTS	GRCh37
Build 36	15	76,672,758 - 76,673,608	RGD	NCBI36
Celera	15	55,822,016 - 55,822,866	RGD
HuRef	15	55,642,792 - 55,643,642	UniSTS

STS-M83712

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,885,463 - 78,885,618	UniSTS	GRCh37
Build 36	15	76,672,518 - 76,672,673	RGD	NCBI36
Celera	15	55,821,776 - 55,821,931	RGD
Cytogenetic Map	15	q24	UniSTS
HuRef	15	55,642,552 - 55,642,707	UniSTS
GeneMap99-GB4 RH Map	15	273.04	UniSTS
NCBI RH Map	15	516.2	UniSTS

CHRNA3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	78,893,679 - 78,893,924	UniSTS	GRCh37
Build 36	15	76,680,734 - 76,680,979	RGD	NCBI36
Celera	15	55,829,993 - 55,830,238	RGD
HuRef	15	55,651,552 - 55,651,797	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1075	2394	2451	1881	4855	1417	1985	2	336	1479	183	2157	5972	5487	42	3577	679	1682	1535	164	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001166694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_046313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006720382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054377228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC027228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC067863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF385584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI833126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ007783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ007784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ007785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ007786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ007787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ584707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ584708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ584709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM666615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M37981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U62432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X53559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y08418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y09146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000326828 ⟹ ENSP00000315602

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,595,309 - 78,620,996 (-)	Ensembl

Ensembl Acc Id:

ENST00000348639 ⟹ ENSP00000267951

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,593,052 - 78,621,295 (-)	Ensembl

Ensembl Acc Id:

ENST00000558903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,601,776 - 78,607,524 (-)	Ensembl

Ensembl Acc Id:

ENST00000559002

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,593,052 - 78,596,732 (-)	Ensembl

Ensembl Acc Id:

ENST00000559080 ⟹ ENSP00000453993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,618,630 - 78,619,278 (-)	Ensembl

Ensembl Acc Id:

ENST00000559658 ⟹ ENSP00000452896

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,593,052 - 78,620,863 (-)	Ensembl

Ensembl Acc Id:

ENST00000559941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,618,849 - 78,620,261 (-)	Ensembl

Ensembl Acc Id:

ENST00000561128

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	78,618,380 - 78,620,789 (-)	Ensembl

RefSeq Acc Id:

NM_000743 ⟹ NP_000734

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	78,595,309 - 78,620,996 (-)	NCBI
GRCh37	15	78,885,394 - 78,913,637 (-)	ENTREZGENE
Build 36	15	76,674,706 - 76,700,377 (-)	NCBI Archive
HuRef	15	55,642,483 - 55,671,504 (-)	ENTREZGENE
CHM1_1	15	79,006,215 - 79,032,196 (-)	NCBI
T2T-CHM13v2.0	15	76,457,978 - 76,484,482 (-)	NCBI

Sequence:

show sequence

ACTCCGGATGGTTCCTGTCCTCCCGCGGGTCCGAGGGCGCTGGAAACCCAGCGGCGGCGAAGCG
GAGAGGAGCCCCGCGCGTCTCCGCCCGCACGGCTCCAGGTCTGGGGTCTGCGCTGGAGCCGCGC
GGGGAGAGGCCGTCTCTGCGACCGCCGCGCCCGCTCCCGACCGTCCGGGTCCGCGGCCAGCCCG
GCCACCAGCCATGGGCTCTGGCCCGCTCTCGCTGCCCCTGGCGCTGTCGCCGCCGCGGCTGCTG
CTGCTGCTGCTGCTGTCTCTGCTGCCAGTGGCCAGGGCCTCAGAGGCTGAGCACCGTCTATTTG
AGCGGCTGTTTGAAGATTACAATGAGATCATCCGGCCTGTAGCCAACGTGTCTGACCCAGTCAT
CATCCATTTCGAGGTGTCCATGTCTCAGCTGGTGAAGGTGGATGAAGTAAACCAGATCATGGAG
ACCAACCTGTGGCTCAAGCAAATCTGGAATGACTACAAGCTGAAATGGAACCCCTCTGACTATG
GTGGGGCAGAGTTCATGCGTGTCCCTGCACAGAAGATCTGGAAGCCAGACATTGTGCTGTATAA
CAATGCTGTTGGGGATTTCCAGGTGGACGACAAGACCAAAGCCTTACTCAAGTACACTGGGGAG
GTGACTTGGATACCTCCGGCCATCTTTAAGAGCTCCTGTAAAATCGACGTGACCTACTTCCCGT
TTGATTACCAAAACTGTACCATGAAGTTCGGTTCCTGGTCCTACGATAAGGCGAAAATCGATCT
GGTCCTGATCGGCTCTTCCATGAACCTCAAGGACTATTGGGAGAGCGGCGAGTGGGCCATCATC
AAAGCCCCAGGCTACAAACACGACATCAAGTACAACTGCTGCGAGGAGATCTACCCCGACATCA
CATACTCGCTGTACATCCGGCGCCTGCCCTTGTTCTACACCATCAACCTCATCATCCCCTGCCT
GCTCATCTCCTTCCTCACTGTGCTCGTCTTCTACCTGCCCTCCGACTGCGGTGAGAAGGTGACC
CTGTGCATTTCTGTCCTCCTCTCCCTGACGGTGTTTCTCCTGGTGATCACTGAGACCATCCCTT
CCACCTCGCTGGTCATCCCCCTGATTGGAGAGTACCTCCTGTTCACCATGATTTTTGTAACCTT
GTCCATCGTCATCACCGTCTTCGTGCTCAACGTGCACTACAGAACCCCGACGACACACACAATG
CCCTCATGGGTGAAGACTGTATTCTTGAACCTGCTCCCCAGGGTCATGTTCATGACCAGGCCAA
CAAGCAACGAGGGCAACGCTCAGAAGCCGAGGCCCCTCTACGGTGCCGAGCTCTCAAATCTGAA
TTGCTTCAGCCGCGCAGAGTCCAAAGGCTGCAAGGAGGGCTACCCCTGCCAGGACGGGATGTGT
GGTTACTGCCACCACCGCAGGATAAAAATCTCCAATTTCAGTGCTAACCTCACGAGAAGCTCTA
GTTCTGAATCTGTTGATGCTGTGCTGTCCCTCTCTGCTTTGTCACCAGAAATCAAAGAAGCCAT
CCAAAGTGTCAAGTATATTGCTGAAAATATGAAAGCACAAAATGAAGCCAAAGAGATTCAAGAT
GATTGGAAGTATGTTGCCATGGTGATTGATCGTATTTTTCTGTGGGTTTTCACCCTGGTGTGCA
TTCTAGGGACAGCAGGATTGTTTCTGCAACCCCTGATGGCCAGGGAAGATGCATAAGCACTAAG
CTGTGTGCCTGCCTGGGAGACTTCCTTGTGTCAGGGCAGGAGGAGGCTGCTTCCTAGTAAGAAC
GTACTTTCTGTTATCAAGCTACCAGCTTTGTTTTTGGCATTTCGAGGTTTACTTATTTTCCACT
TATCTTGGAATCATGCAAAAAAAAAAATGTCAAGAGTATTTATTACCGATAAATGAACATTTAA
CTAGCCTTTTTGGTATGGTAAAGAGATGTCAAAATGTGATTCTATGTGATTAGTATGCTATGCT
ATGGAATATACATGTAAAAATGTTTCCTTTTAGTTGTTGAAACAAAACTGGATAGAAAAATGCT
GTTCAGAAATATGAAAAGTCATTCAGTTATCACTACAGATCTCCCAGTAATTTTTCTTATTTAG
CCCATAATCTCTTTGAAGGTTTATACTAATTCAGCAATCCCCCATCGTTACCCATTTCTTACCA
TGCATTTCTCGTTCTTTACTGGGTCTAAAGGGCTATGCCTCCATTTCAGAGAGCTTCAACTACT
TCTCTTGCATACTTCTAAATTATACCATGAGAAATCATGCCTAGTTATTCATTGTTAATATAAC
TGTCTTAGTACACCATAAACTGGGTGGATTATAAACAACAGAAACTTCTCAGTTTTGGAGGTTG
GGAGGTCCAAGGTCAAGGCACCAGCAAATTTGGTGTCTGGTGAGGGTCCTCTTCCTCAAAGGGT
GCCTTCTAGCTGTGTCCTCACATGACTGAAGGGACTAGCTATCTCTGTGGGGTCTATTTTATAA
GGGCACTAACCCCATTCATGAGAGCAGAGCCCCCATGGCCTAATCACCTTTCCAAGGCCCCACC
TTCTATCTAAGACAATCACGCTGGGAATAGGTTTCAACATATGAATTGGGGGAGGACACATTTG
GACCACAGCATGAACCTTTAGAACAGGGTTTCTCAGCCTTAGCACTATGGACATTTTGGGCTGG
ATAAATATGTGTTGGTACAGAATGGGGGTATCCTGTGCATTGTAGGATCTTTAGCAGTACCCTA
GCCTCAACTCACTAGATGCCAATGACATACCTTGCTTCTTCACCAGTTATGATAACCAAGAATG
TCTCCATTGTTAAATGTTCCCTTAGGAGCAAAATTGCCCCTGGTTGAGAAACATTGCTTTAGAC
AAATTGTTAAGAGTATCATGTACTACACTTCTGAAACTTAACGTGATCATCACCACTGACAGAT
GATTCACAGAGACTGTTTGAATCTTGTCTCACTAGTTTTTCCTGTGCAAAAATAAAATGGACAG
AATTGCA

hide sequence

RefSeq Acc Id:

NM_001166694 ⟹ NP_001160166

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	78,593,052 - 78,620,996 (-)	NCBI
GRCh37	15	78,885,394 - 78,913,637 (-)	ENTREZGENE
HuRef	15	55,642,483 - 55,671,504 (-)	ENTREZGENE
CHM1_1	15	79,003,962 - 79,032,196 (-)	NCBI
T2T-CHM13v2.0	15	76,455,721 - 76,484,482 (-)	NCBI

Sequence:

show sequence

ACTCCGGATGGTTCCTGTCCTCCCGCGGGTCCGAGGGCGCTGGAAACCCAGCGGCGGCGAAGCG
GAGAGGAGCCCCGCGCGTCTCCGCCCGCACGGCTCCAGGTCTGGGGTCTGCGCTGGAGCCGCGC
GGGGAGAGGCCGTCTCTGCGACCGCCGCGCCCGCTCCCGACCGTCCGGGTCCGCGGCCAGCCCG
GCCACCAGCCATGGGCTCTGGCCCGCTCTCGCTGCCCCTGGCGCTGTCGCCGCCGCGGCTGCTG
CTGCTGCTGCTGCTGTCTCTGCTGCCAGTGGCCAGGGCCTCAGAGGCTGAGCACCGTCTATTTG
AGCGGCTGTTTGAAGATTACAATGAGATCATCCGGCCTGTAGCCAACGTGTCTGACCCAGTCAT
CATCCATTTCGAGGTGTCCATGTCTCAGCTGGTGAAGGTGGATGAAGTAAACCAGATCATGGAG
ACCAACCTGTGGCTCAAGCAAATCTGGAATGACTACAAGCTGAAATGGAACCCCTCTGACTATG
GTGGGGCAGAGTTCATGCGTGTCCCTGCACAGAAGATCTGGAAGCCAGACATTGTGCTGTATAA
CAATGCTGTTGGGGATTTCCAGGTGGACGACAAGACCAAAGCCTTACTCAAGTACACTGGGGAG
GTGACTTGGATACCTCCGGCCATCTTTAAGAGCTCCTGTAAAATCGACGTGACCTACTTCCCGT
TTGATTACCAAAACTGTACCATGAAGTTCGGTTCCTGGTCCTACGATAAGGCGAAAATCGATCT
GGTCCTGATCGGCTCTTCCATGAACCTCAAGGACTATTGGGAGAGCGGCGAGTGGGCCATCATC
AAAGCCCCAGGCTACAAACACGACATCAAGTACAACTGCTGCGAGGAGATCTACCCCGACATCA
CATACTCGCTGTACATCCGGCGCCTGCCCTTGTTCTACACCATCAACCTCATCATCCCCTGCCT
GCTCATCTCCTTCCTCACTGTGCTCGTCTTCTACCTGCCCTCCGACTGCGGTGAGAAGGTGACC
CTGTGCATTTCTGTCCTCCTCTCCCTGACGGTGTTTCTCCTGGTGATCACTGAGACCATCCCTT
CCACCTCGCTGGTCATCCCCCTGATTGGAGAGTACCTCCTGTTCACCATGATTTTTGTAACCTT
GTCCATCGTCATCACCGTCTTCGTGCTCAACGTGCACTACAGAACCCCGACGACACACACAATG
CCCTCATGGGTGAAGACTGTATTCTTGAACCTGCTCCCCAGGGTCATGTTCATGACCAGGCCAA
CAAGCAACGAGGGCAACGCTCAGAAGCCGAGGCCCCTCTACGGTGCCGAGCTCTCAAATCTGAA
TTGCTTCAGCCGCGCAGAGTCCAAAGGCTGCAAGGAGGGCTACCCCTGCCAGGACGGGATGTGT
GGTTACTGCCACCACCGCAGGATAAAAATCTCCAATTTCAGTGCTAACCTCACGAGAAGCTCTA
GTTCTGAATCTGTTGATGCTGTGCTGTCCCTCTCTGCTTTGTCACCAGAAATCAAAGAAGCCAT
CCAAAGTGTCAAGTATATTGCTGAAAATATGAAAGCACAAAATGAAGCCAAAGAGGAACAAAAA
GCCCAAGAGATCCAACAATTGAAACGAAAAGAAAAGTCCACAGAAACATCCGATCAAGAACCTG
GGCTATGAATTTCCAATCTTCAACAACCTGTTAGGAAAAAAATAAAAATGCATTAAATAATTGT
AAA

hide sequence

RefSeq Acc Id:

NR_046313

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	78,593,052 - 78,620,996 (-)	NCBI
GRCh37	15	78,885,394 - 78,913,637 (-)	NCBI
HuRef	15	55,642,483 - 55,671,504 (-)	NCBI
CHM1_1	15	79,003,962 - 79,032,196 (-)	NCBI
T2T-CHM13v2.0	15	76,455,721 - 76,484,482 (-)	NCBI

Sequence:

show sequence

ACTCCGGATGGTTCCTGTCCTCCCGCGGGTCCGAGGGCGCTGGAAACCCAGCGGCGGCGAAGCG
GAGAGGAGCCCCGCGCGTCTCCGCCCGCACGGCTCCAGGTCTGGGGTCTGCGCTGGAGCCGCGC
GGGGAGAGGCCGTCTCTGCGACCGCCGCGCCCGCTCCCGACCGTCCGGGTCCGCGGCCAGCCCG
GCCACCAGCCATGGGCTCTGGCCCGCTCTCGCTGCCCCTGGCGCTGTCGCCGCCGCGGCTGCTG
CTGCTGCTGCTGCTGTCTCTGCTGCCAGTGGCCAGGGCCTCAGAGGCTGAGCACCGTCTATTTG
AGCGGCTGTTTGAAGATTACAATGAGATCATCCGGCCTGTAGCCAACGTGTCTGACCCAGTCAT
CATCCATTTCGAGGTGTCCATGTCTCAGCTGGTGAAGGTGGATGAAGTAAACCAGATCATGGAG
ACCAACCTGTGGCTCAAGCAAATCTGGAATGACTACAAGCTGAAATGGAACCCCTCTGACTATG
GTGGGGCAGAGTTCATGCGTGTCCCTGCACAGAAGATCTGGAAGCCAGACATTGTGCTGTATAA
CAATGCTGTTGGGGATTTCCAGGTGGACGACAAGACCAAAGCCTTACTCAAGTACACTGGGGAG
GTGACTTGGATACCTCCGGCCATCTTTAAGAGCTCCTGTAAAATCGACGTGACCTACTTCCCGT
TTGATTACCAAAACTGTACCATGAAGTTCGGTTCCTGGTCCTACGATAAGGCGAAAATCGATCT
GGTCCTGATCGGCTCTTCCATGAACCTCAAGGACTATTGGGAGAGCGGCGAGTGGGCCATCATC
AAAGCCCCAGGCTACAAACACGACATCAAGTACAACTGCTGCGAGGAGATCTACCCCGACATCA
CATACTCGCTGTACATCCGGCGCCTGCCCTTGTTCTACACCATCAACCTCATCATCCCCTGCCT
GCTCATCTCCTTCCTCACTGTGCTCGTCTTCTACCTGCCCTCCGACTGCGGTGAGAAGGTGACC
CTGTGCATTTCTGTCCTCCTCTCCCTGACGGTGTTTCTCCTGGTGATCACTGAGACCATCCCTT
CCACCTCGCTGGTCATCCCCCTGATTGGAGAGTACCTCCTGTTCACCATGATTTTTGTAACCTT
GTCCATCGTCATCACCGTCTTCGTGCTCAACGTGCACTACAGAACCCCGACGACACACACAATG
CCCTCATGGGTGAAGACTGTATTCTTGAACCTGCTCCCCAGGGTCATGTTCATGACCAGGCCAA
CAAGCAACGAGGGCAACGCTCAGAAGCCGAGGCCCCTCTACGGTGCCGAGCTCTCAAATCTGAA
TTGCTTCAGCCGCGCAGAGTCCAAAGGCTGCAAGGAGGGCTACCCCTGCCAGGACGGGATGTGT
GGTTACTGCCACCACCGCAGGATAAAAATCTCCAATTTCAGTGCTAACCTCACGAGAAGCTCTA
GTTCTGAATCTGTTGATGCTGTGCTGTCCCTCTCTGCTTTGTCACCAGAAATCAAAGAAGCCAT
CCAAAGTGTCAAGTATATTGCTGAAAATATGAAAGCACAAAATGAAGCCAAAGAGATTCAAGAT
GATTGGAAGTATGTTGCCATGGTGATTGATCGTATTTTTCTGTGGGTTTTCACCCTGGTGTGCA
TTCTAGGGACAGCAGGATTGTTTCTGCAACCCCTGATGGCCAGGGAAGATGCATAAGCACTAAG
CTGTGTGCCTGCCTGGGAGACTTCCTTGTGTCAGGGCAGGAGGAGGCTGCTTCCTAGCTGGAGT
GCAATGGCGTGATCTCAGCTCACCGCAACCTCCGCCACCTGGGTTCAAGCGATTCTCCTGCCGC
AGCCTCCCAGGTAGCTGGGATTACAGGAACAAAAAGCCCAAGAGATCCAACAATTGAAACGAAA
AGAAAAGTCCACAGAAACATCCGATCAAGAACCTGGGCTATGAATTTCCAATCTTCAACAACCT
GTTAGGAAAAAAATAAAAATGCATTAAATAATTGTAAA

hide sequence

RefSeq Acc Id:

XM_006720382 ⟹ XP_006720445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	78,595,309 - 78,620,363 (-)	NCBI

Sequence:

show sequence

AAGAGGGGAGTCGCTTCGGGACTGGGGCTGGAGCTGGAGCGCCAGCCTCTCCTCCGGTTGTAGC
CTCCTAGCGCTCCTGGCTGCGTCGCTGAGGGACCCTCCACCGGGAGAGCGCCTCCTGTCTTCCT
CCCGCTCTCCAGAGGAGCCTGCTGGGGGAAGCCGGCCCTGGCCCGCCGCTGGGAGGCTCTTGGG
TGCCTGGGAGGGCTGGTGGGTAGCGAGAGTCGGGGACCGGGCAAGGCTGCAGGGAATTCCTGGA
GGGCCCAGGCCGGCGGTCTGTCGTGCGGCTGTGAGCTCAGAGCGCTTTCCGCCCTCGGTGCCGA
GGCCTGCACTACTCAGAACGCCATACGCTCTCAACCGACCTCCTGCCTGGGACCCTTCTTTCAT
CCTGGGGAAGGAGAGTGGGGAGCAGGAAAAATCCTATTTCAAGACCTGAGGAAGTTGGATTCAA
CTTCCTAGAGGATTCTCCTCCCGCTTCCCCAAGCTGCCCCCAGATCTGTACGTGGGAATCAGAA
GACAGCTGACCCGTGGCCAGGGCCTCAGAGGCTGAGCACCGTCTATTTGAGCGGCTGTTTGAAG
ATTACAATGAGATCATCCGGCCTGTAGCCAACGTGTCTGACCCAGTCATCATCCATTTCGAGGT
GTCCATGTCTCAGCTGGTGAAGGTGGATGAAGTAAACCAGATCATGGAGACCAACCTGTGGCTC
AAGCAAATCTGGAATGACTACAAGCTGAAATGGAACCCCTCTGACTATGGTGGGGCAGAGTTCA
TGCGTGTCCCTGCACAGAAGATCTGGAAGCCAGACATTGTGCTGTATAACAATGCTGTTGGGGA
TTTCCAGGTGGACGACAAGACCAAAGCCTTACTCAAGTACACTGGGGAGGTGACTTGGATACCT
CCGGCCATCTTTAAGAGCTCCTGTAAAATCGACGTGACCTACTTCCCGTTTGATTACCAAAACT
GTACCATGAAGTTCGGTTCCTGGTCCTACGATAAGGCGAAAATCGATCTGGTCCTGATCGGCTC
TTCCATGAACCTCAAGGACTATTGGGAGAGCGGCGAGTGGGCCATCATCAAAGCCCCAGGCTAC
AAACACGACATCAAGTACAACTGCTGCGAGGAGATCTACCCCGACATCACATACTCGCTGTACA
TCCGGCGCCTGCCCTTGTTCTACACCATCAACCTCATCATCCCCTGCCTGCTCATCTCCTTCCT
CACTGTGCTCGTCTTCTACCTGCCCTCCGACTGCGGTGAGAAGGTGACCCTGTGCATTTCTGTC
CTCCTCTCCCTGACGGTGTTTCTCCTGGTGATCACTGAGACCATCCCTTCCACCTCGCTGGTCA
TCCCCCTGATTGGAGAGTACCTCCTGTTCACCATGATTTTTGTAACCTTGTCCATCGTCATCAC
CGTCTTCGTGCTCAACGTGCACTACAGAACCCCGACGACACACACAATGCCCTCATGGGTGAAG
ACTGTATTCTTGAACCTGCTCCCCAGGGTCATGTTCATGACCAGGCCAACAAGCAACGAGGGCA
ACGCTCAGAAGCCGAGGCCCCTCTACGGTGCCGAGCTCTCAAATCTGAATTGCTTCAGCCGCGC
AGAGTCCAAAGGCTGCAAGGAGGGCTACCCCTGCCAGGACGGGATGTGTGGTTACTGCCACCAC
CGCAGGATAAAAATCTCCAATTTCAGTGCTAACCTCACGAGAAGCTCTAGTTCTGAATCTGTTG
ATGCTGTGCTGTCCCTCTCTGCTTTGTCACCAGAAATCAAAGAAGCCATCCAAAGTGTCAAGTA
TATTGCTGAAAATATGAAAGCACAAAATGAAGCCAAAGAGATTCAAGATGATTGGAAGTATGTT
GCCATGGTGATTGATCGTATTTTTCTGTGGGTTTTCACCCTGGTGTGCATTCTAGGGACAGCAG
GATTGTTTCTGCAACCCCTGATGGCCAGGGAAGATGCATAAGCACTAAGCTGTGTGCCTGCCTG
GGAGACTTCCTTGTGTCAGGGCAGGAGGAGGCTGCTTCCTAGTAAGAACGTACTTTCTGTTATC
AAGCTACCAGCTTTGTTTTTGGCATTTCGAGGTTTACTTATTTTCCACTTATCTTGGAATCATG
CAAAAAAAAAAATGTCAAGAGTATTTATTACCGATAAATGAACATTTAACTAGCCTTTTTGGTA
TGGTAAAGAGATGTCAAAATGTGATTCTATGTGATTAGTATGCTATGCTATGGAATATACATGT
AAAAATGTTTCCTTTTAGTTGTTGAAACAAAACTGGATAGAAAAATGCTGTTCAGAAATATGAA
AAGTCATTCAGTTATCACTACAGATCTCCCAGTAATTTTTCTTATTTAGCCCATAATCTCTTTG
AAGGTTTATACTAATTCAGCAATCCCCCATCGTTACCCATTTCTTACCATGCATTTCTCGTTCT
TTACTGGGTCTAAAGGGCTATGCCTCCATTTCAGAGAGCTTCAACTACTTCTCTTGCATACTTC
TAAATTATACCATGAGAAATCATGCCTAGTTATTCATTGTTAATATAACTGTCTTAGTACACCA
TAAACTGGGTGGATTATAAACAACAGAAACTTCTCAGTTTTGGAGGTTGGGAGGTCCAAGGTCA
AGGCACCAGCAAATTTGGTGTCTGGTGAGGGTCCTCTTCCTCAAAGGGTGCCTTCTAGCTGTGT
CCTCACATGACTGAAGGGACTAGCTATCTCTGTGGGGTCTATTTTATAAGGGCACTAACCCCAT
TCATGAGAGCAGAGCCCCCATGGCCTAATCACCTTTCCAAGGCCCCACCTTCTATCTAAGACAA
TCACGCTGGGAATAGGTTTCAACATATGAATTGGGGGAGGACACATTTGGACCACAGCATGAAC
CTTTAGAACAGGGTTTCTCAGCCTTAGCACTATGGACATTTTGGGCTGGATAAATATGTGTTGG
TACAGAATGGGGGTATCCTGTGCATTGTAGGATCTTTAGCAGTACCCTAGCCTCAACTCACTAG
ATGCCAATGACATACCTTGCTTCTTCACCAGTTATGATAACCAAGAATGTCTCCATTGTTAAAT
GTTCCCTTAGGAGCAAAATTGCCCCTGGTTGAGAAACATTGCTTTAGACAAATTGTTAAGAGTA
TCATGTACTACACTTCTGAAACTTAACGTGATCATCACCACTGACAGATGATTCACAGAGACTG
TTTGAATCTTGTCTCACTAGTTTTTCCTGTGCAAAAATAAAATGGACAGAATTGCA

hide sequence

RefSeq Acc Id:

XM_054377228 ⟹ XP_054233203

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	15	76,457,978 - 76,483,804 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_000734	(Get FASTA)	NCBI Sequence Viewer
	NP_001160166	(Get FASTA)	NCBI Sequence Viewer
	XP_006720445	(Get FASTA)	NCBI Sequence Viewer
	XP_054233203	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA59942	(Get FASTA)	NCBI Sequence Viewer
	AAB40110	(Get FASTA)	NCBI Sequence Viewer
	AAH00513	(Get FASTA)	NCBI Sequence Viewer
	AAH01642	(Get FASTA)	NCBI Sequence Viewer
	AAH02996	(Get FASTA)	NCBI Sequence Viewer
	AAH06114	(Get FASTA)	NCBI Sequence Viewer
	AAH98443	(Get FASTA)	NCBI Sequence Viewer
	AAK68110	(Get FASTA)	NCBI Sequence Viewer
	AAP35292	(Get FASTA)	NCBI Sequence Viewer
	AAP35543	(Get FASTA)	NCBI Sequence Viewer
	BAG60465	(Get FASTA)	NCBI Sequence Viewer
	CAA07682	(Get FASTA)	NCBI Sequence Viewer
	CAA37625	(Get FASTA)	NCBI Sequence Viewer
	CAA69695	(Get FASTA)	NCBI Sequence Viewer
	CAE48369	(Get FASTA)	NCBI Sequence Viewer
	CAE48370	(Get FASTA)	NCBI Sequence Viewer
	CAE48371	(Get FASTA)	NCBI Sequence Viewer
	EAW99156	(Get FASTA)	NCBI Sequence Viewer
	EAW99157	(Get FASTA)	NCBI Sequence Viewer
	EAW99158	(Get FASTA)	NCBI Sequence Viewer
	EAW99159	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000267951
	ENSP00000267951.4
	ENSP00000315602
	ENSP00000315602.5
	ENSP00000452896.1
	ENSP00000453993.1
GenBank Protein	P32297	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001160166 ⟸ NM_001166694

- Peptide Label:

isoform 2 precursor

- Sequence:

show sequence

MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHF
EVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAV
GDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLI
GSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRLPLFYTINLIIPCLLIS
FLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIV
ITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFS
RAESKGCKEGYPCQDGMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSV
KYIAENMKAQNEAKEEQKAQEIQQLKRKEKSTETSDQEPGL

hide sequence

RefSeq Acc Id:	NP_000734 ⟸ NM_000743
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q9BQ93 (UniProtKB/Swiss-Prot), Q99553 (UniProtKB/Swiss-Prot), Q96RH3 (UniProtKB/Swiss-Prot), Q86U77 (UniProtKB/Swiss-Prot), Q4KMN8 (UniProtKB/Swiss-Prot), Q15823 (UniProtKB/Swiss-Prot), Q9BRR4 (UniProtKB/Swiss-Prot), P32297 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHF EVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAV GDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLI GSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRLPLFYTINLIIPCLLIS FLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIV ITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFS RAESKGCKEGYPCQDGMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSV KYIAENMKAQNEAKEIQDDWKYVAMVIDRIFLWVFTLVCILGTAGLFLQPLMAREDA hide sequence

RefSeq Acc Id:

XP_006720445 ⟸ XM_006720382

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDF
QVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSS
MNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRLPLFYTINLIIPCLLISFLT
VLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIVITV
FVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAE
SKGCKEGYPCQDGMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYI
AENMKAQNEAKEIQDDWKYVAMVIDRIFLWVFTLVCILGTAGLFLQPLMAREDA

hide sequence

Ensembl Acc Id:

ENSP00000267951 ⟸ ENST00000348639

Ensembl Acc Id:

ENSP00000452896 ⟸ ENST00000559658

Ensembl Acc Id:

ENSP00000453993 ⟸ ENST00000559080

Ensembl Acc Id:

ENSP00000315602 ⟸ ENST00000326828

RefSeq Acc Id:	XP_054233203 ⟸ XM_054377228
- Peptide Label:	isoform X1

Protein Domains

Neurotransmitter-gated ion-channel transmembrane

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P32297-F1-model_v2	AlphaFold	P32297	1-505	view protein structure

Promoters

RGD ID:

6792236

Promoter ID:

HG_KWN:22047

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat

Transcripts:

ENST00000326858

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	76,680,981 - 76,681,481 (-)	MPROMDB

RGD ID:

7230247

Promoter ID:

EPDNEW_H20869

Type:

initiation region

Name:

CHRNA3_1

Description:

cholinergic receptor nicotinic alpha 3 subunit

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H20870

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	78,620,996 - 78,621,056	EPDNEW

RGD ID:

7230249

Promoter ID:

EPDNEW_H20870

Type:

initiation region

Name:

CHRNA3_2

Description:

cholinergic receptor nicotinic alpha 3 subunit

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H20869

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	78,621,279 - 78,621,339	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:1957	AgrOrtholog
COSMIC	CHRNA3	COSMIC
Ensembl Genes	ENSG00000080644	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000326828	ENTREZGENE
	ENST00000326828.6	UniProtKB/Swiss-Prot
	ENST00000348639	ENTREZGENE
	ENST00000348639.7	UniProtKB/Swiss-Prot
	ENST00000559080.1	UniProtKB/TrEMBL
	ENST00000559658.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.58.390	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.70.170.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000080644	GTEx
HGNC ID	HGNC:1957	ENTREZGENE
Human Proteome Map	CHRNA3	Human Proteome Map
InterPro	Neur_chan_lig-bd	UniProtKB/Swiss-Prot
	Neur_chan_lig-bd_sf	UniProtKB/Swiss-Prot
	Neur_channel	UniProtKB/Swiss-Prot
	Neuro-gated_channel_TM_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Neuro_actylchol_rec	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Neurotrans-gated_channel_TM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Neurotransmitter_ion_chnl_CS	UniProtKB/Swiss-Prot
	Nicotinic_acetylcholine_rcpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:1136	UniProtKB/Swiss-Prot
NCBI Gene	1136	ENTREZGENE
OMIM	118503	OMIM
PANTHER	NEURONAL ACETYLCHOLINE RECEPTOR SUBUNIT ALPHA-3	UniProtKB/Swiss-Prot
	PTHR18945	UniProtKB/Swiss-Prot
Pfam	Neur_chan_LBD	UniProtKB/Swiss-Prot
	Neur_chan_memb	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	CHRNA3	RGD, PharmGKB
PRINTS	NICOTINICR	UniProtKB/Swiss-Prot
	NRIONCHANNEL	UniProtKB/Swiss-Prot
PROSITE	NEUROTR_ION_CHANNEL	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF63712	UniProtKB/Swiss-Prot
	SSF90112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	ACHA3_HUMAN	UniProtKB/Swiss-Prot
	H0YNF9_HUMAN	UniProtKB/TrEMBL
	P32297	ENTREZGENE
	Q15823	ENTREZGENE
	Q4KMN8	ENTREZGENE
	Q6EWN2_HUMAN	UniProtKB/TrEMBL
	Q86U77	ENTREZGENE
	Q96RH3	ENTREZGENE
	Q99553	ENTREZGENE
	Q9BQ93	ENTREZGENE
	Q9BRR4	ENTREZGENE
UniProt Secondary	Q15823	UniProtKB/Swiss-Prot
	Q4KMN8	UniProtKB/Swiss-Prot
	Q86U77	UniProtKB/Swiss-Prot
	Q96RH3	UniProtKB/Swiss-Prot
	Q99553	UniProtKB/Swiss-Prot
	Q9BQ93	UniProtKB/Swiss-Prot
	Q9BRR4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-10	CHRNA3	cholinergic receptor nicotinic alpha 3 subunit		cholinergic receptor, nicotinic alpha 3	Symbol and/or name change	5135510	APPROVED
2015-12-08	CHRNA3	cholinergic receptor, nicotinic alpha 3		cholinergic receptor, nicotinic, alpha 3	Symbol and/or name change	5135510	APPROVED
2015-11-10	CHRNA3	cholinergic receptor, nicotinic, alpha 3		cholinergic receptor, nicotinic, alpha 3 (neuronal)	Symbol and/or name change	5135510	APPROVED
2012-02-14	CHRNA3	cholinergic receptor, nicotinic, alpha 3 (neuronal)	CHRNA3	cholinergic receptor, nicotinic, alpha 3	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar