CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) - Rat Genome Database

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Gene: CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) Homo sapiens
Analyze
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 chronic obstructive pulmonary disease; lung cancer (multiple); nicotine dependence; and stomach cancer. 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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,593,052 - 78,620,996 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,593,052 - 78,621,295 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,885,394 - 78,913,338 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,674,706 - 76,700,377 (-)NCBINCBI36Build 36hg18NCBI36
Build 341576,674,706 - 76,700,377NCBI
Celera1555,821,707 - 55,849,902 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,642,483 - 55,671,504 (-)NCBIHuRef
CHM1_11579,003,962 - 79,032,196 (-)NCBICHM1_1
T2T-CHM13v2.01576,455,721 - 76,484,482 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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)
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)
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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
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. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
21. 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.
22. 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.
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. 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.
26. 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.
27. 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.
28. 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.
29. 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.
30. Time-dependent changes in rat brain cholinergic receptor expression after experimental brain injury. Verbois SL, etal., J Neurotrauma. 2002 Dec;19(12):1569-85.
31. 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.
32. 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.
33. 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.
34. 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:24057674  
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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,593,052 - 78,620,996 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,593,052 - 78,621,295 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,885,394 - 78,913,338 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,674,706 - 76,700,377 (-)NCBINCBI36Build 36hg18NCBI36
Build 341576,674,706 - 76,700,377NCBI
Celera1555,821,707 - 55,849,902 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,642,483 - 55,671,504 (-)NCBIHuRef
CHM1_11579,003,962 - 79,032,196 (-)NCBICHM1_1
T2T-CHM13v2.01576,455,721 - 76,484,482 (-)NCBIT2T-CHM13v2.0
Chrna3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39954,917,401 - 54,933,846 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl954,917,395 - 54,933,846 (-)EnsemblGRCm39 Ensembl
GRCm38955,010,117 - 55,026,562 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl955,010,111 - 55,026,562 (-)EnsemblGRCm38mm10GRCm38
MGSCv37954,859,150 - 54,874,366 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36954,809,480 - 54,824,696 (-)NCBIMGSCv36mm8
Celera952,254,751 - 52,269,961 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map929.84NCBI
Chrna3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8864,297,755 - 64,311,251 (-)NCBIGRCr8
mRatBN7.2855,401,668 - 55,415,165 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl855,401,702 - 55,415,165 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx860,943,296 - 60,956,354 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0859,222,294 - 59,235,355 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0857,086,538 - 57,099,598 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0859,594,007 - 59,607,122 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl859,592,403 - 59,607,275 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0858,176,165 - 58,189,008 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4858,570,223 - 58,583,594 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1858,588,997 - 58,602,801 (-)NCBI
Celera854,888,972 - 54,929,562 (-)NCBICelera
Cytogenetic Map8q24NCBI
Chrna3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955450977,075 - 1,011,372 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955450979,630 - 1,011,316 (-)NCBIChiLan1.0ChiLan1.0
CHRNA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21667,807,750 - 67,835,101 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11571,973,644 - 72,000,975 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01557,523,553 - 57,550,228 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11576,486,416 - 76,513,899 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1576,487,710 - 76,512,044 (-)Ensemblpanpan1.1panPan2
CHRNA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11338,330,287 - 38,343,142 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1338,328,814 - 38,346,246 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1338,289,178 - 38,306,359 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,802,608 - 38,819,775 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,802,250 - 38,833,013 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11338,493,778 - 38,510,924 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,603,187 - 38,616,744 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01339,078,181 - 39,095,376 (+)NCBIUU_Cfam_GSD_1.0
Chrna3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640118,579,566 - 118,599,906 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647136,427,495 - 36,457,758 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647136,427,598 - 36,447,903 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl747,361,899 - 47,384,303 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1747,361,710 - 47,382,743 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2752,787,929 - 52,806,220 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1264,721,145 - 4,747,694 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl264,722,489 - 4,737,164 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048137,048,285 - 137,075,017 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrna3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248942,324,501 - 2,357,723 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248942,324,480 - 2,357,389 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRNA3
104 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 condition [RCV000991220]|not provided [RCV000480331] Chr15:78601734..78601735 [GRCh38]
Chr15:78894076..78894077 [GRCh37]
Chr15:15q25.1		 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 condition [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] 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.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 condition [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_000745.4(CHRNA5):c.*552T>C 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 Inborn genetic diseases [RCV003356414] 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
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.

Markers in Region
SHGC-36097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,887,664 - 78,887,761UniSTSGRCh37
Build 361576,674,719 - 76,674,816RGDNCBI36
Celera1555,823,977 - 55,824,078RGD
Cytogenetic Map15q24UniSTS
HuRef1555,644,753 - 55,644,854UniSTS
Stanford-G3 RH Map152795.0UniSTS
NCBI RH Map15508.7UniSTS
GeneMap99-G3 RH Map152790.0UniSTS
RH98633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,914,657 - 78,914,798UniSTSGRCh37
Build 361576,701,712 - 76,701,853RGDNCBI36
Celera1555,850,922 - 55,851,063RGD
Cytogenetic Map15q24UniSTS
HuRef1555,672,524 - 55,672,665UniSTS
GeneMap99-GB4 RH Map15273.83UniSTS
RH121399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,911,687 - 78,911,998UniSTSGRCh37
Build 361576,698,742 - 76,699,053RGDNCBI36
Celera1555,847,955 - 55,848,266RGD
Cytogenetic Map15q24UniSTS
HuRef1555,669,565 - 55,669,876UniSTS
TNG Radiation Hybrid Map1530760.0UniSTS
CHRNA3_541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,887,550 - 78,888,396UniSTSGRCh37
Build 361576,674,605 - 76,675,451RGDNCBI36
Celera1555,823,863 - 55,824,713RGD
HuRef1555,644,639 - 55,645,489UniSTS
CHRNA5_1914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,885,703 - 78,886,553UniSTSGRCh37
Build 361576,672,758 - 76,673,608RGDNCBI36
Celera1555,822,016 - 55,822,866RGD
HuRef1555,642,792 - 55,643,642UniSTS
STS-M83712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,885,463 - 78,885,618UniSTSGRCh37
Build 361576,672,518 - 76,672,673RGDNCBI36
Celera1555,821,776 - 55,821,931RGD
Cytogenetic Map15q24UniSTS
HuRef1555,642,552 - 55,642,707UniSTS
GeneMap99-GB4 RH Map15273.04UniSTS
NCBI RH Map15516.2UniSTS
CHRNA3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,893,679 - 78,893,924UniSTSGRCh37
Build 361576,680,734 - 76,680,979RGDNCBI36
Celera1555,829,993 - 55,830,238RGD
HuRef1555,651,552 - 55,651,797UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 362 1 50 1 27 1 8 116 5 20 26
Low 1502 148 574 29 375 15 991 685 1366 54 666 384 19 1 22 495
Below cutoff 530 2103 793 306 1077 167 2917 1448 2094 196 713 1121 145 1053 1956 2

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

Reference Sequences
RefSeq Acc Id: ENST00000326828   ⟹   ENSP00000315602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,595,309 - 78,620,996 (-)Ensembl
RefSeq Acc Id: ENST00000348639   ⟹   ENSP00000267951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,593,052 - 78,621,295 (-)Ensembl
RefSeq Acc Id: ENST00000558903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,601,776 - 78,607,524 (-)Ensembl
RefSeq Acc Id: ENST00000559002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,593,052 - 78,596,732 (-)Ensembl
RefSeq Acc Id: ENST00000559080   ⟹   ENSP00000453993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,618,630 - 78,619,278 (-)Ensembl
RefSeq Acc Id: ENST00000559658   ⟹   ENSP00000452896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,593,052 - 78,620,863 (-)Ensembl
RefSeq Acc Id: ENST00000559941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,618,849 - 78,620,261 (-)Ensembl
RefSeq Acc Id: ENST00000561128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,618,380 - 78,620,789 (-)Ensembl
RefSeq Acc Id: NM_000743   ⟹   NP_000734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,595,309 - 78,620,996 (-)NCBI
GRCh371578,885,394 - 78,913,637 (-)ENTREZGENE
Build 361576,674,706 - 76,700,377 (-)NCBI Archive
HuRef1555,642,483 - 55,671,504 (-)ENTREZGENE
CHM1_11579,006,215 - 79,032,196 (-)NCBI
T2T-CHM13v2.01576,457,978 - 76,484,482 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166694   ⟹   NP_001160166
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,593,052 - 78,620,996 (-)NCBI
GRCh371578,885,394 - 78,913,637 (-)ENTREZGENE
HuRef1555,642,483 - 55,671,504 (-)ENTREZGENE
CHM1_11579,003,962 - 79,032,196 (-)NCBI
T2T-CHM13v2.01576,455,721 - 76,484,482 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046313
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,593,052 - 78,620,996 (-)NCBI
GRCh371578,885,394 - 78,913,637 (-)NCBI
HuRef1555,642,483 - 55,671,504 (-)NCBI
CHM1_11579,003,962 - 79,032,196 (-)NCBI
T2T-CHM13v2.01576,455,721 - 76,484,482 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720382   ⟹   XP_006720445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,595,309 - 78,620,363 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054377228   ⟹   XP_054233203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,457,978 - 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  
Reference Protein Sequences
RefSeq Acc Id: NP_001160166   ⟸   NM_001166694
- Peptide Label: isoform 2 precursor
- 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:
RefSeq Acc Id: XP_006720445   ⟸   XM_006720382
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000267951   ⟸   ENST00000348639
RefSeq Acc Id: ENSP00000452896   ⟸   ENST00000559658
RefSeq Acc Id: ENSP00000453993   ⟸   ENST00000559080
RefSeq 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 AssemblyChrPosition (strand)Source
Build 361576,680,981 - 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 AssemblyChrPosition (strand)Source
GRCh381578,620,996 - 78,621,056EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381578,621,279 - 78,621,339EPDNEW

Additional Information

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