CHRNA6 (cholinergic receptor nicotinic alpha 6 subunit) - Rat Genome Database

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Gene: CHRNA6 (cholinergic receptor nicotinic alpha 6 subunit) Homo sapiens
Analyze
Symbol: CHRNA6
Name: cholinergic receptor nicotinic alpha 6 subunit
RGD ID: 733511
HGNC Page HGNC:15963
Description: Predicted to enable acetylcholine-gated monoatomic cation-selective channel activity. Predicted to contribute to acetylcholine receptor activity. Predicted to be involved in membrane depolarization; response to nicotine; and synaptic signaling. Predicted to act upstream of or within regulation of dopamine secretion. Predicted to be located in presynapse. Predicted to be part of acetylcholine-gated channel complex. Predicted to be active in dopaminergic synapse; neuron projection; and synaptic membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetylcholine receptor, nicotinic, alpha 6 (neuronal); alpha(alpha)6 nicotinic acetylcholine receptor (nAChR) subunit; CHNRA6; cholinergic receptor, nicotinic alpha 6; cholinergic receptor, nicotinic, alpha 6 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 6; neuronal acetylcholine receptor subunit alpha-6
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
GRCh38842,752,620 - 42,768,786 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl842,752,620 - 42,796,392 (-)EnsemblGRCh38hg38GRCh38
GRCh37842,607,763 - 42,623,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,726,920 - 42,742,776 (-)NCBINCBI36Build 36hg18NCBI36
Build 34842,726,936 - 42,742,776NCBI
Celera841,555,760 - 41,571,616 (-)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef841,129,999 - 41,146,165 (-)NCBIHuRef
CHM1_1842,654,698 - 42,670,848 (-)NCBICHM1_1
T2T-CHM13v2.0843,020,720 - 43,036,889 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. 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.
2. Varenicline is a potent partial agonist at alpha6beta2* nicotinic acetylcholine receptors in rat and monkey striatum. Bordia T, etal., J Pharmacol Exp Ther. 2012 Aug;342(2):327-34. doi: 10.1124/jpet.112.194852. Epub 2012 May 1.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8906617   PMID:8950106   PMID:12150770   PMID:12195439   PMID:12406580   PMID:12477932   PMID:12537063   PMID:15489334   PMID:17081983   PMID:17207965   PMID:17324557   PMID:17373692  
PMID:18055561   PMID:18198416   PMID:18704094   PMID:18940582   PMID:18940593   PMID:19059502   PMID:19086053   PMID:19156168   PMID:19204725   PMID:19259974   PMID:19500157   PMID:19564872  
PMID:19698703   PMID:20029407   PMID:20231857   PMID:20418888   PMID:20584212   PMID:20734064   PMID:20736995   PMID:20854418   PMID:20923852   PMID:21831805   PMID:21832048   PMID:21873428  
PMID:21873635   PMID:21917987   PMID:22315221   PMID:23002780   PMID:23227187   PMID:23899432   PMID:24085295   PMID:24253422   PMID:24401102   PMID:24675634   PMID:24792900   PMID:24886653  
PMID:25068303   PMID:25823894   PMID:27085880   PMID:27107012   PMID:27327258   PMID:27344019   PMID:28851948   PMID:37680128  


Genomics

Comparative Map Data
CHRNA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,752,620 - 42,768,786 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl842,752,620 - 42,796,392 (-)EnsemblGRCh38hg38GRCh38
GRCh37842,607,763 - 42,623,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,726,920 - 42,742,776 (-)NCBINCBI36Build 36hg18NCBI36
Build 34842,726,936 - 42,742,776NCBI
Celera841,555,760 - 41,571,616 (-)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef841,129,999 - 41,146,165 (-)NCBIHuRef
CHM1_1842,654,698 - 42,670,848 (-)NCBICHM1_1
T2T-CHM13v2.0843,020,720 - 43,036,889 (-)NCBIT2T-CHM13v2.0
Chrna6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39827,893,240 - 27,903,972 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl827,893,240 - 27,903,972 (-)EnsemblGRCm39 Ensembl
GRCm38827,403,212 - 27,413,944 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl827,403,212 - 27,413,944 (-)EnsemblGRCm38mm10GRCm38
MGSCv37828,513,684 - 28,524,416 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36828,869,148 - 28,879,880 (-)NCBIMGSCv36mm8
Celera828,895,511 - 28,906,624 (-)NCBICelera
Cytogenetic Map8A2NCBI
cM Map816.02NCBI
Chrna6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81671,400,615 - 71,407,315 (+)NCBIGRCr8
mRatBN7.21664,697,741 - 64,704,441 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1664,697,741 - 64,704,441 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1669,989,064 - 69,996,216 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01673,395,406 - 73,402,558 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01668,633,137 - 68,639,837 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01668,860,018 - 68,866,718 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1668,860,018 - 68,866,718 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01668,486,608 - 68,493,308 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41669,012,201 - 69,018,901 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11669,012,406 - 69,019,107 (+)NCBI
Celera1662,621,116 - 62,627,795 (+)NCBICelera
Cytogenetic Map16q12.3NCBI
Chrna6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955536166,212 - 172,551 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955536166,212 - 172,551 (+)NCBIChiLan1.0ChiLan1.0
CHRNA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2761,210,352 - 61,225,975 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1836,926,422 - 36,942,028 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0842,000,748 - 42,016,913 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1839,444,447 - 39,460,569 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl839,444,447 - 39,460,569 (-)Ensemblpanpan1.1panPan2
CHRNA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11622,990,377 - 23,009,257 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1622,990,167 - 23,009,106 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1623,495,595 - 23,514,480 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01624,742,037 - 24,760,849 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1624,742,086 - 24,760,838 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11623,110,331 - 23,129,174 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01623,675,367 - 23,694,204 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01623,726,376 - 23,745,181 (+)NCBIUU_Cfam_GSD_1.0
Chrna6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494345,430,209 - 46,072,980 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493678518,147 - 27,409 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493678517,588 - 28,565 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1711,725,880 - 11,739,747 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11711,725,880 - 11,739,949 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21712,640,324 - 12,654,370 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1840,750,839 - 40,767,010 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl840,751,375 - 40,766,236 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660521,004,827 - 1,022,056 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrna6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624780462,195 - 477,568 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRNA6
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p11.21(chr8:42037723-42900363)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|See cases [RCV000052169] Chr8:42037723..42900363 [GRCh38]
Chr8:41895241..42755506 [GRCh37]
Chr8:42014398..42874663 [NCBI36]
Chr8:8p11.21		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3 copy number gain See cases [RCV000053674] Chr8:42535063..43541633 [GRCh38]
Chr8:42390206..43396776 [GRCh37]
Chr8:42509363..43515933 [NCBI36]
Chr8:8p11.21-11.1		 benign
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_001199279.1(CHRNA6):c.508G>A (p.Glu170Lys) single nucleotide variant Malignant melanoma [RCV000068325] Chr8:42756646 [GRCh38]
Chr8:42611789 [GRCh37]
Chr8:42730946 [NCBI36]
Chr8:8p11.21		 not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1 copy number loss See cases [RCV000141648] Chr8:42236286..42758909 [GRCh38]
Chr8:42093804..42614052 [GRCh37]
Chr8:42212961..42733209 [NCBI36]
Chr8:8p11.21		 likely pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
Single allele deletion Idiopathic basal ganglia calcification 1 [RCV000258007] Chr8:42338721..42916885 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_004198.3(CHRNA6):c.128C>T (p.Ser43Phe) single nucleotide variant Inborn genetic diseases [RCV003252671] Chr8:42765156 [GRCh38]
Chr8:42620299 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p11.21(chr8:42303397-43002481)x1 copy number loss not provided [RCV000682997] Chr8:42303397..43002481 [GRCh37]
Chr8:8p11.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_004198.3(CHRNA6):c.819G>A (p.Thr273=) single nucleotide variant not provided [RCV000958610] Chr8:42756380 [GRCh38]
Chr8:42611523 [GRCh37]
Chr8:8p11.21		 benign
NM_004198.3(CHRNA6):c.732G>A (p.Thr244=) single nucleotide variant not provided [RCV000972776] Chr8:42756467 [GRCh38]
Chr8:42611610 [GRCh37]
Chr8:8p11.21		 benign
NM_004198.3(CHRNA6):c.798G>A (p.Ser266=) single nucleotide variant not provided [RCV000971375] Chr8:42756401 [GRCh38]
Chr8:42611544 [GRCh37]
Chr8:8p11.21		 benign
NM_004198.3(CHRNA6):c.107G>C (p.Arg36Thr) single nucleotide variant not provided [RCV000909206] Chr8:42765177 [GRCh38]
Chr8:42620320 [GRCh37]
Chr8:8p11.21		 benign
NC_000008.10:g.(?_42128869)_(43054732_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV000803272] Chr8:42128869..43054732 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1		 uncertain significance
GRCh37/hg19 8p11.21(chr8:42582656-42986488)x3 copy number gain not provided [RCV001006101] Chr8:42582656..42986488 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.10:g.(?_41518984)_(42698237_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003107431] Chr8:41518984..42698237 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095) copy number gain not specified [RCV002053760] Chr8:42162574..48757095 [GRCh37]
Chr8:8p11.21-q11.21		 uncertain significance
NC_000008.10:g.(?_41518984)_(43054712_?)dup duplication Torsion dystonia 6 [RCV003116544]|not provided [RCV003109566] Chr8:41518984..43054712 [GRCh37]
Chr8:8p11.21		 uncertain significance|no classifications from unflagged records
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p11.21(chr8:42303398-43002481)x1 copy number loss not provided [RCV002472547] Chr8:42303398..43002481 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_004198.3(CHRNA6):c.887C>T (p.Thr296Ile) single nucleotide variant Inborn genetic diseases [RCV002844501] Chr8:42756312 [GRCh38]
Chr8:42611455 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.1025A>G (p.Lys342Arg) single nucleotide variant Inborn genetic diseases [RCV002925375] Chr8:42756174 [GRCh38]
Chr8:42611317 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.997A>G (p.Thr333Ala) single nucleotide variant Inborn genetic diseases [RCV002956873] Chr8:42756202 [GRCh38]
Chr8:42611345 [GRCh37]
Chr8:8p11.21		 likely benign
NM_004198.3(CHRNA6):c.1277C>G (p.Ser426Trp) single nucleotide variant Inborn genetic diseases [RCV002981948] Chr8:42755922 [GRCh38]
Chr8:42611065 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.989G>A (p.Arg330His) single nucleotide variant Inborn genetic diseases [RCV002652013] Chr8:42756210 [GRCh38]
Chr8:42611353 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.992C>T (p.Thr331Ile) single nucleotide variant Inborn genetic diseases [RCV002939965] Chr8:42756207 [GRCh38]
Chr8:42611350 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.1244C>T (p.Pro415Leu) single nucleotide variant Inborn genetic diseases [RCV003190200] Chr8:42755955 [GRCh38]
Chr8:42611098 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.1368G>T (p.Trp456Cys) single nucleotide variant Inborn genetic diseases [RCV003210806] Chr8:42753296 [GRCh38]
Chr8:42608439 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_004198.3(CHRNA6):c.49T>C (p.Trp17Arg) single nucleotide variant Inborn genetic diseases [RCV003174908] Chr8:42768382 [GRCh38]
Chr8:42623525 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 copy number gain See cases [RCV003329560] Chr8:36763176..50929707 [GRCh37]
Chr8:8p11.23-q11.21		 pathogenic
NM_004198.3(CHRNA6):c.1006A>G (p.Thr336Ala) single nucleotide variant Inborn genetic diseases [RCV003349864] Chr8:42756193 [GRCh38]
Chr8:42611336 [GRCh37]
Chr8:8p11.21		 uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p11.21(chr8:42274263-42690522)x3 copy number gain not specified [RCV003986743] Chr8:42274263..42690522 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3 copy number gain not specified [RCV003986759] Chr8:37988714..43780050 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3 copy number gain not specified [RCV003986761] Chr8:37972810..43837099 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:763
Count of miRNA genes:506
Interacting mature miRNAs:553
Transcripts:ENST00000276410, ENST00000529467, ENST00000530869, ENST00000533810, ENST00000534622
Prediction methods:Miranda, Rnahybrid
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-5780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,608,850 - 42,609,037UniSTSGRCh37
Build 36842,728,007 - 42,728,194RGDNCBI36
Celera841,556,847 - 41,557,034RGD
Cytogenetic Map8p11.21UniSTS
HuRef841,131,086 - 41,131,273UniSTS
Stanford-G3 RH Map81784.0UniSTS
NCBI RH Map8640.0UniSTS
RH71244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,608,211 - 42,608,372UniSTSGRCh37
Build 36842,727,368 - 42,727,529RGDNCBI36
Celera841,556,208 - 41,556,369RGD
Cytogenetic Map8p11.21UniSTS
HuRef841,130,447 - 41,130,608UniSTS
RH135820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,619,365 - 42,620,623UniSTSGRCh37
Build 36842,738,522 - 42,739,780RGDNCBI36
Celera841,567,362 - 41,568,620RGD
Cytogenetic Map8p11.21UniSTS
HuRef841,141,601 - 41,142,859UniSTS
CHRNA6_1902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,607,620 - 42,608,415UniSTSGRCh37
Build 36842,726,777 - 42,727,572RGDNCBI36
Celera841,555,617 - 41,556,412RGD
HuRef841,129,856 - 41,130,651UniSTS
G17210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,609,151 - 42,609,301UniSTSGRCh37
Build 36842,728,308 - 42,728,458RGDNCBI36
Celera841,557,148 - 41,557,298RGD
Cytogenetic Map8p11.21UniSTS
HuRef841,131,387 - 41,131,537UniSTS


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
Medium 52 8 1 6 2 2 3
Low 6 5 82 11 483 11 47 3 685 45 132 36 1 5
Below cutoff 830 1187 1053 217 615 128 2026 724 2209 184 809 1007 94 1 397 1345 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000276410   ⟹   ENSP00000276410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,752,620 - 42,768,786 (-)Ensembl
RefSeq Acc Id: ENST00000529467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,764,973 - 42,768,648 (-)Ensembl
RefSeq Acc Id: ENST00000530869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,756,940 - 42,768,632 (-)Ensembl
RefSeq Acc Id: ENST00000533810   ⟹   ENSP00000434659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,756,629 - 42,796,392 (-)Ensembl
RefSeq Acc Id: ENST00000534622   ⟹   ENSP00000433871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,752,927 - 42,768,610 (-)Ensembl
RefSeq Acc Id: NM_001199279   ⟹   NP_001186208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,752,620 - 42,768,786 (-)NCBI
GRCh37842,607,763 - 42,623,929 (-)ENTREZGENE
HuRef841,129,999 - 41,146,165 (-)ENTREZGENE
CHM1_1842,654,698 - 42,670,848 (-)NCBI
T2T-CHM13v2.0843,020,720 - 43,036,884 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004198   ⟹   NP_004189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,752,620 - 42,768,786 (-)NCBI
GRCh37842,607,763 - 42,623,929 (-)ENTREZGENE
Build 36842,726,920 - 42,742,776 (-)NCBI Archive
HuRef841,129,999 - 41,146,165 (-)ENTREZGENE
CHM1_1842,654,698 - 42,670,848 (-)NCBI
T2T-CHM13v2.0843,020,720 - 43,036,884 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422396   ⟹   XP_047278352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,752,620 - 42,768,786 (-)NCBI
RefSeq Acc Id: XM_054361454   ⟹   XP_054217429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0843,020,720 - 43,036,889 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001186208   ⟸   NM_001199279
- Peptide Label: isoform 2 precursor
- UniProtKB: Q15825 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004189   ⟸   NM_004198
- Peptide Label: isoform 1 precursor
- UniProtKB: B2R8V4 (UniProtKB/Swiss-Prot),   B4DQH1 (UniProtKB/Swiss-Prot),   Q15825 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000434659   ⟸   ENST00000533810
RefSeq Acc Id: ENSP00000433871   ⟸   ENST00000534622
RefSeq Acc Id: ENSP00000276410   ⟸   ENST00000276410
RefSeq Acc Id: XP_047278352   ⟸   XM_047422396
- Peptide Label: isoform X1
- UniProtKB: Q15825 (UniProtKB/Swiss-Prot),   B2R8V4 (UniProtKB/Swiss-Prot),   B4DQH1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054217429   ⟸   XM_054361454
- Peptide Label: isoform X1
- UniProtKB: Q15825 (UniProtKB/Swiss-Prot),   B2R8V4 (UniProtKB/Swiss-Prot),   B4DQH1 (UniProtKB/Swiss-Prot)
Protein Domains
Neurotransmitter-gated ion-channel ligand-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15825-F1-model_v2 AlphaFold Q15825 1-494 view protein structure

Promoters
RGD ID:6806565
Promoter ID:HG_KWN:61219
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_004198
Position:
Human AssemblyChrPosition (strand)Source
Build 36842,742,651 - 42,743,151 (-)MPROMDB
RGD ID:7213223
Promoter ID:EPDNEW_H12357
Type:initiation region
Name:CHRNA6_1
Description:cholinergic receptor nicotinic alpha 6 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,768,718 - 42,768,778EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15963 AgrOrtholog
COSMIC CHRNA6 COSMIC
Ensembl Genes ENSG00000147434 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000276410 ENTREZGENE
  ENST00000276410.7 UniProtKB/Swiss-Prot
  ENST00000533810.5 UniProtKB/TrEMBL
  ENST00000534622 ENTREZGENE
  ENST00000534622.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147434 GTEx
HGNC ID HGNC:15963 ENTREZGENE
Human Proteome Map CHRNA6 Human Proteome Map
InterPro Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot
  Neuro_actylchol_rec UniProtKB/Swiss-Prot
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nicotinic_acetylcholine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8973 UniProtKB/Swiss-Prot
NCBI Gene 8973 ENTREZGENE
OMIM 606888 OMIM
PANTHER NEURONAL ACETYLCHOLINE RECEPTOR SUBUNIT ALPHA-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot
PharmGKB PA26492 PharmGKB
PRINTS NICOTINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot
UniProt ACHA6_HUMAN UniProtKB/Swiss-Prot
  B2R8V4 ENTREZGENE
  B4DQH1 ENTREZGENE
  E9PP97_HUMAN UniProtKB/TrEMBL
  L8ECB0_HUMAN UniProtKB/TrEMBL
  Q15825 ENTREZGENE
UniProt Secondary B2R8V4 UniProtKB/Swiss-Prot
  B4DQH1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CHRNA6  cholinergic receptor nicotinic alpha 6 subunit    cholinergic receptor, nicotinic alpha 6  Symbol and/or name change 5135510 APPROVED
2015-12-08 CHRNA6  cholinergic receptor, nicotinic alpha 6    cholinergic receptor, nicotinic, alpha 6  Symbol and/or name change 5135510 APPROVED
2015-11-10 CHRNA6  cholinergic receptor, nicotinic, alpha 6    cholinergic receptor, nicotinic, alpha 6 (neuronal)  Symbol and/or name change 5135510 APPROVED
2012-02-14 CHRNA6  cholinergic receptor, nicotinic, alpha 6 (neuronal)  CHRNA6  cholinergic receptor, nicotinic, alpha 6  Symbol and/or name change 5135510 APPROVED