Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA.
| RefSeq Version | NM_018325.2, 209863035 |
| Length | 3233 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA. |
| Product | hypothetical protein LOC203228 isoform a |
| Comment | COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK291425.1, BC068445.1, BC020851.2, BC039112.1 and AK001971.1. On Oct 21, 2008 this sequence version replaced gi:37039611. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_060795.1 |
| CDS | 98..1543 | Exon (1) | 1..53 | Exon (2) | 1..53 | Exon (3) | 54..541 | Exon (4) | 542..601 | Exon (5) | 602..697 | Exon (6) | 698..762 | Exon (7) | 763..835 | Exon (8) | 836..952 | Exon (9) | 953..1188 | Exon (10) | 1189..1246 | Exon (11) | 1247..1356 | Exon (12) | 1357..3233 |
| Translation | MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEIT
FLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTE
LSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEV
IPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSS
AEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY
APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESF
TPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT
QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMT
F
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| Position | Chain | Variation | Link |
| complement(71) | - | t, c | dbSNP:10757668 |
| complement(76) | - | t, g | dbSNP:77791104 |
| complement(79) | - | t, a | dbSNP:77042371 |
| complement(394) | - | dbSNP: | |
| complement(394) | - | g, a | dbSNP:112179438 |
| complement(481) | - | g, a | dbSNP:111392681 |
| 625 | + | c, t | dbSNP:34608611 |
| complement(716..718) | - | , att | dbSNP:113299382 |
| complement(717) | - | t, c | dbSNP:17769294 |
| complement(740) | - | g, a | dbSNP:113939233 |
| complement(762) | - | t, c | dbSNP:111621456 |
| complement(796) | - | c, a | dbSNP:74619849 |
| complement(967) | - | g, a | dbSNP:10122902 |
| 993 | + | c, t | dbSNP:35726666 |
| complement(1274) | - | g, a | dbSNP:2643806 |
| complement(1283) | - | t, c | dbSNP:78059219 |
| complement(1301) | - | g, a | dbSNP:811641 |
| complement(1330) | - | t, g | dbSNP:34602100 |
| complement(1360) | - | t, c | dbSNP:812272 |
| 1372 | + | a, g | dbSNP:2453563 |
| complement(1456) | - | t, c | dbSNP:1088056 |
| complement(1637) | - | t, c | dbSNP:12237092 |
| complement(1651) | - | c, a | dbSNP:2783013 |
| complement(1690) | - | t, c | dbSNP:2783012 |
| complement(1791) | - | g, a | dbSNP:73440933 |
| complement(1975) | - | t, c | dbSNP:111422595 |
| complement(2219..2220) | - | , c | dbSNP:34400956 |
| complement(2355) | - | g, a | dbSNP:114297800 |
| complement(2380) | - | t, c | dbSNP:80172172 |
| complement(2418) | - | g, a | dbSNP:15540 |
| 2464 | + | a, c | dbSNP:3739526 |
| complement(2601) | - | c, a | dbSNP:41272887 |
| 2887 | + | c, t | dbSNP:13691 |
| 2949 | + | a, c, t | dbSNP:9103 |
| Gene Symbol | C9orf72 |
| Gene Synonym | MGC23980; RP11-27J8.2 |
| Chromosome | 9 |
| Locus Map | 9p21.2 |
| All Transcripts | NM_018325 , NM_145005 |
| Title | Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study . |
| Author | Laaksovirta,H., Peuralinna,T., Schymick,J.C., Scholz,S.W., Lai,S.L., Myllykangas,L., Sulkava,R., Jansson,L., Hernandez,D.G., Gibbs,J.R., Nalls,M.A., Heckerman,D., Tienari,P.J. and Traynor,B.J. |
| Journal | Lancet Neurol 9 (10), 978-985 (2010) |
| Title | Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study . |
| Author | Suarez-Gestal,M., Perez-Pampin,E., Calaza,M., Gomez-Reino,J.J. and Gonzalez,A. |
| Journal | Arthritis Res. Ther. 12 (2), R72 (2010) |
| Title | Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis . |
| Author | van Es,M.A., Veldink,J.H., Saris,C.G., Blauw,H.M., van Vught,P.W., Birve,A., Lemmens,R., Schelhaas,H.J., Groen,E.J., Huisman,M.H., van der Kooi,A.J., de Visser,M., Dahlberg,C., Estrada,K., Rivadeneira,F., Hofman,A., Zwarts,M.J., van Doormaal,P.T., Rujescu,D., Strengman,E., Giegling,I., Muglia,P., Tomik,B., Slowik,A., Uitterlinden,A.G., Hendrich,C., Waibel,S., Meyer,T., Ludolph,A.C., Glass,J.D., Purcell,S., Cichon,S., Nothen,M.M., Wichmann,H.E., Schreiber,S., Vermeulen,S.H., Kiemeney,L.A., Wokke,J.H., Cronin,S., McLaughlin,R.L., Hardiman,O., Fumoto,K., Pasterkamp,R.J., Meininger,V., Melki,J., Leigh,P.N., Shaw,C.E., Landers,J.E., Al-Chalabi,A., Brown,R.H. Jr., Robberecht,W., Andersen,P.M., Ophoff,R.A. and van den Berg,L.H. |
| Journal | Nat. Genet. 41 (10), 1083-1087 (2009) |
| Title | DNA sequence and analysis of human chromosome 9 . |
| Author | Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E., Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E., Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I., Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O., Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D., Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C., Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E., Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M., Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J., Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P., Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V., Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J., Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A., Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J., Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S., Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C., Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M., Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S., Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I., Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S., Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R., Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D., Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A., Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L., Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L., Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E., Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and Dunham,I. |
| Journal | Nature 429 (6990), 369-374 (2004) |
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