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Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005199 Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_005199.4, 61743913
Length 2187 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA.
Product acetylcholine receptor subunit gamma precursor

Summary: The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009].

RefSeq NP_005190.4
CDS 22..1575
Misc Feature(1)13..15
Misc Feature(2)13..15
Misc Feature(3)88..1506
Misc Feature(4)97..744
Misc Feature(5)742..816
Misc Feature(6)763..1497
Misc Feature(7)844..900
Misc Feature(8)946..1011
Misc Feature(9)1444..1506
Exon (1)1..76
Gene Synonym:ACHRG
Exon (2)77..216
Gene Synonym:ACHRG
Exon (3)217..261
Gene Synonym:ACHRG
Exon (4)262..371
Gene Synonym:ACHRG
Exon (5)372..527
Gene Synonym:ACHRG
Exon (6)528..625
Gene Synonym:ACHRG
Exon (7)626..826
Gene Synonym:ACHRG
Exon (8)827..941
Gene Synonym:ACHRG
Exon (9)942..1056
Gene Synonym:ACHRG
Exon (10)1057..1270
Gene Synonym:ACHRG
Exon (11)1271..1401
Gene Synonym:ACHRG
Exon (12)1402..2187
Gene Synonym:ACHRG
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Position Chain Variation Link
13+a, tdbSNP:186758675
34+c, tdbSNP:267606725
41+c, tdbSNP:200661257
42+a, gdbSNP:138991640
93+c, tdbSNP:143418126
95+a, tdbSNP:201453316
103+c, tdbSNP:140623763
105+c, tdbSNP:2573202
146+a, gdbSNP:148468628
150+c, tdbSNP:151276788
151+a, gdbSNP:186589083
152+c, tdbSNP:140462342
153+a, gdbSNP:141402683
157+c, tdbSNP:121912672
165+a, gdbSNP:143153750
219+c, tdbSNP:148982752
245+a, gdbSNP:202052789
289+a, gdbSNP:201502519
303+c, tdbSNP:183500569
330+a, gdbSNP:148012978
341+g, tdbSNP:267606726
346+c, tdbSNP:150697820
347+a, gdbSNP:147136675
348+a, gdbSNP:150809496
351+a, gdbSNP:149931943
358+a, gdbSNP:139633799
388+a, gdbSNP:199937736
441+a, gdbSNP:201762781
461+a, gdbSNP:144323121
465+c, tdbSNP:142435378
466+a, gdbSNP:2289080
488+a, gdbSNP:201970994
492+c, tdbSNP:143272752
495+c, tdbSNP:145907618
498+c, tdbSNP:13391285
529+c, tdbSNP:201865286
592+a, gdbSNP:189660100
614+a, cdbSNP:138653046
643+a, gdbSNP:200473548
681+a, gdbSNP:200224934
682+g, tdbSNP:148066463
684+a, gdbSNP:150556220
735+a, cdbSNP:17838626
736+c, tdbSNP:121912670
758+a, tdbSNP:139998228
775+c, tdbSNP:145847096
796+a, gdbSNP:138125827
834+a, cdbSNP:200595788
846+c, tdbSNP:199593123
858+c, tdbSNP:200660641
910+c, gdbSNP:201857172
924+a, gdbSNP:200738933
934+a, gdbSNP:142582718
949+a, tdbSNP:145830034
972+a, cdbSNP:75369104
981+c, tdbSNP:149535359
982+a, gdbSNP:138637669
1017+a, gdbSNP:113978875
1040+c, gdbSNP:140084413
1043+a, c, gdbSNP:141485470
1067+, gdbSNP:34630130
1077+c, tdbSNP:139278970
1080+a, gdbSNP:200220463
1096+c, tdbSNP:16829208
1099+a, cdbSNP:200263643
1100+a, gdbSNP:140875617
1112+c, tdbSNP:200208278
1113+a, gdbSNP:144846001
1117+g, tdbSNP:143522081
1120+c, gdbSNP:150928642
1121+c, tdbSNP:74691009
1136+c, tdbSNP:145433186
1139+a, gdbSNP:144755776
1149+c, tdbSNP:143840391
1158+a, gdbSNP:147318482
1167+a, gdbSNP:200065628
1169+c, tdbSNP:144961313
1218+c, gdbSNP:149893884
1251+a, gdbSNP:144948513
1280+c, tdbSNP:146674765
1307+a, gdbSNP:145607890
1364+c, tdbSNP:139108448
1394+g, tdbSNP:140836265
1399+a, gdbSNP:138232636
1402+a, gdbSNP:143800157
1429+c, tdbSNP:121912671
1430+c, gdbSNP:143306273
1441+c, tdbSNP:199767964
1442+c, tdbSNP:16829216
1443+c, tdbSNP:2099489
1523+c, tdbSNP:185590413
1537+c, tdbSNP:71421651
1652+c, tdbSNP:11690038
1750+a, gdbSNP:190449191
1776+c, gdbSNP:144523413
1782+c, tdbSNP:147814126
1801+a, gdbSNP:141353873
1816+c, tdbSNP:111733445
1926+a, gdbSNP:111802317
1957+c, gdbSNP:182946513
2052+a, c, tdbSNP:59295139
2071+a, gdbSNP:72991937
2085+c, tdbSNP:2853459
2101+g, tdbSNP:187625908
2143+c, tdbSNP:72991939
2145..2146+, tdbSNP:34664424
2150+c, gdbSNP:12613412
2165..2166+, ctdbSNP:199761478
2166..2172+, tctttttdbSNP:144816964
2166..2167+, tdbSNP:71398725
2167+c, tdbSNP:72991940
2168..2169+, ttdbSNP:72497674
Gene SymbolCHRNG
Gene SynonymACHRG
Locus Map2q37.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005199 Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA. On-demand $699.00 18
Title CHRNG genotype-phenotype correlations in the multiple pterygium syndromes .
Author Vogt,J., Morgan,N.V., Rehal,P., Faivre,L., Brueton,L.A., Becker,K., Fryns,J.P., Holder,S., Islam,L., Kivuva,E., Lynch,S.A., Touraine,R., Wilson,L.C., MacDonald,F. and Maher,E.R.
Journal J. Med. Genet. 49 (1), 21-26 (2012)
Title Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans .
Author Saccone,N.L., Schwantes-An,T.H., Wang,J.C., Grucza,R.A., Breslau,N., Hatsukami,D., Johnson,E.O., Rice,J.P., Goate,A.M. and Bierut,L.J.
Journal Genes Brain Behav. 9 (7), 741-750 (2010)
Title Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment .
Author Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R., Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F., Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L., Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M., Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and Carracedo,A.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6), 808-816 (2009)
Title Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes .
Author Saccone,N.L., Saccone,S.F., Hinrichs,A.L., Stitzel,J.A., Duan,W., Pergadia,M.L., Agrawal,A., Breslau,N., Grucza,R.A., Hatsukami,D., Johnson,E.O., Madden,P.A., Swan,G.E., Wang,J.C., Goate,A.M., Rice,J.P. and Bierut,L.J.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (4), 453-466 (2009)
Title Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties .
Author Zouridakis,M., Zisimopoulou,P., Eliopoulos,E., Poulas,K. and Tzartos,S.J.
Journal Biochim. Biophys. Acta 1794 (2), 355-366 (2009)
Title Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor .
Author Kreienkamp,H.J., Maeda,R.K., Sine,S.M. and Taylor,P.
Journal Neuron 14 (3), 635-644 (1995)
Title Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits .
Author Beeson,D., Brydson,M., Betty,M., Jeremiah,S., Povey,S., Vincent,A. and Newsom-Davis,J.
Journal Eur. J. Biochem. 215 (2), 229-238 (1993)
Title Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q .
Author Schurr,E., Skamene,E., Morgan,K., Chu,M.L. and Gros,P.
Journal Genomics 8 (3), 477-486 (1990)
Title Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter .
Author Cohen-Haguenauer,O., Barton,P.J., Buonanno,A., Cong,N.V., Masset,M., de Tand,M.F., Merlie,J. and Frezal,J.
Journal Cytogenet. Cell Genet. 52 (3-4), 124-127 (1989)
Title Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor .
Author Shibahara,S., Kubo,T., Perski,H.J., Takahashi,H., Noda,M. and Numa,S.
Journal Eur. J. Biochem. 146 (1), 15-22 (1985)

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