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Database:

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Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19789 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu19789C Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000346.3, 182765453
Length 1530 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.
Product transcription factor SOX-9
Comment

Summary: The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008].

RefSeq NP_000337.1
CDS 373..1902
Misc Feature(1)229..231
Misc Feature(2)433..657
Misc Feature(3)433..657
Misc Feature(4)682..894
Misc Feature(5)order(691..693,697..702,706..711,718..723,730..732,
Misc Feature(6)1003..1005
Exon (1)1..803
Gene:SOX9
Gene Synonym:CMD1; CMPD1; SRA1
Exon (2)804..1057
Gene:SOX9
Gene Synonym:CMD1; CMPD1; SRA1
Exon (3)1058..3935
Gene:SOX9
Gene Synonym:CMD1; CMPD1; SRA1
Translation MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDL KKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAAR RKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRK SVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPP QPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI ADTSGVPSIPQTHSPQHWEQPVYTQLTRP
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Position Chain Variation Link
182+dbSNP:
182+g, tdbSNP:184391511
183+c, tdbSNP:187245903
204+a, gdbSNP:115615437
217+a, tdbSNP:111264561
220+c, tdbSNP:113434276
221+a, cdbSNP:375345768
229+a, tdbSNP:9906217
290+a, gdbSNP:116826102
300+a, cdbSNP:11555395
356+c, gdbSNP:201838871
358+a, gdbSNP:374408940
433+a, gdbSNP:193920972
547+a, gdbSNP:367592961
559+c, gdbSNP:149852681
592+a, cdbSNP:374439583
599+a, cdbSNP:137853128
625+c, gdbSNP:368623884
648+g, tdbSNP:139490970
659+a, gdbSNP:148407362
672+a, gdbSNP:142549685
813+dbSNP:
813+c, tdbSNP:200906477
834+c, gdbSNP:137853129
844+a, gdbSNP:137853130
849+a, gdbSNP:369677666
852+a, gdbSNP:370267426
865+c, tdbSNP:28940282
876+c, tdbSNP:146463314
879+c, tdbSNP:2229989
889+a, gdbSNP:104894647
891+a, gdbSNP:202115157
894+c, tdbSNP:373719106
903+a, gdbSNP:144824678
909+a, gdbSNP:368864961
940+c, gdbSNP:61740803
953+a, gdbSNP:375577899
963+c, tdbSNP:146754673
981+c, tdbSNP:140368355
1000+a, gdbSNP:201541265
1024+a, gdbSNP:377486002
1086+dbSNP:
1086+c, gdbSNP:368191855
1089+c, tdbSNP:370713128
1105+a, gdbSNP:375127115
1133+g, tdbSNP:183824168
1189+c, gdbSNP:201477430
1230+a, cdbSNP:149355998
1275+c, tdbSNP:372120742
1286+c, gdbSNP:143697828
1287+a, gdbSNP:375409661
1290+a, gdbSNP:367966473
1292+c, gdbSNP:202028563
1302+c, tdbSNP:138423956
1348+g, tdbSNP:143983059
1351+a, gdbSNP:76093568
1359+c, gdbSNP:200484258
1363+a, gdbSNP:199887368
1462+c, gdbSNP:200658115
1463+a, c, tdbSNP:200133354
1465+g, tdbSNP:200168037
1484+c, tdbSNP:376470765
1485+c, tdbSNP:929651
1490+c, gdbSNP:112211472
1515+a, gdbSNP:371745406
1516+c, tdbSNP:267605028
1539+a, gdbSNP:147286621
1557+a, gdbSNP:375976801
1576+c, tdbSNP:12942952
1629+c, tdbSNP:139253700
1652+a, gdbSNP:201994187
1671+g, tdbSNP:141557610
1675+a, gdbSNP:202126529
1692+a, c, g, tdbSNP:80338688
1693+a, gdbSNP:372158546
1742+a, gdbSNP:375186985
1854+c, tdbSNP:189130850
1875+c, tdbSNP:139015010
1882+a, gdbSNP:149888060
1911+c, tdbSNP:372582694
1920+g, tdbSNP:375623969
1925+a, cdbSNP:1042667
1935+a, gdbSNP:182589071
1972+a, cdbSNP:375026149
2027..2029+, ttcdbSNP:201601287
2146+c, gdbSNP:147753223
complement(2150)-g, adbSNP:141946815
2155+a, gdbSNP:368921209
2237+a, gdbSNP:145813713
2309+a, gdbSNP:9916712
2423+c, tdbSNP:8066204
2712+c, gdbSNP:1042672
2713+a, gdbSNP:1042673
2828+c, tdbSNP:74999341
2831+a, cdbSNP:73354570
2901+c, tdbSNP:185467299
3070+, tdbSNP:55940649
3084+c, tdbSNP:79312359
3155..3156+, atgdbSNP:139942297
complement(3208)-t, adbSNP:11555394
complement(3211)-t, adbSNP:11555393
3411..3412+, tgdbSNP:143971728
3423+g, tdbSNP:113739085
3424+g, tdbSNP:77238880
3437+a, cdbSNP:199547126
3438+g, tdbSNP:62070123
3469+c, tdbSNP:140205038
3482+a, gdbSNP:1042678
3616+, adbSNP:35490076
3655+a, gdbSNP:371065897
complement(3725)-t, cdbSNP:150340278
complement(3806)-c, adbSNP:11555392
3873+c, tdbSNP:371170000
3879..3880+, tdbSNP:11448561
3880+, tdbSNP:35909615
3881+c, tdbSNP:181505150
complement(3891)-, adbSNP:398031512
Gene SymbolSOX9
Gene SynonymCMD1; CMPD1; SRA1
Chromosome17
Locus Map17q24.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. On-demand TBD TBD
Title SOX9: a useful marker for pancreatic ductal lineage of pancreatic neoplasms .
Author Shroff S, Rashid A, Wang H, Katz MH, Abbruzzese JL, Fleming JB and Wang H.
Journal Hum. Pathol. 45 (3), 456-463 (2014)
Title miR-1247 functions by targeting cartilage transcription factor SOX9 .
Author Martinez-Sanchez A and Murphy CL.
Journal J. Biol. Chem. 288 (43), 30802-30814 (2013)
Title Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3 .
Author Miyake A, Kou I, Takahashi Y, Johnson TA, Ogura Y, Dai J, Qiu X, Takahashi A, Jiang H, Yan H, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Hosono N, Tsuji T, Suzuki T, Sudo H, Kotani T, Yonezawa I, Kubo M, Tsunoda T, Watanabe K, Chiba K, Toyama Y, Qiu Y, Matsumoto M and Ikegawa S.
Journal PLoS ONE 8 (9), E72802 (2013)
Title Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal .
Author Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD and Young ID.
Journal Am. J. Hum. Genet. 57 (5), 1028-1036 (1995)
Title Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation .
Author Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S and Seino Y.
Journal Am. J. Med. Genet. 56 (1), 31-34 (1995)
Title Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 .
Author Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W and Scherer G.
Journal Cell 79 (6), 1111-1120 (1994)
Title Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene .
Author Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID and Goodfellow PN.
Journal Nature 372 (6506), 525-530 (1994)
Title Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1 .
Author Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR and Reinwein H.
Journal Nat. Genet. 4 (2), 170-174 (1993)
Title Campomelic Dysplasia .
Author Unger,S., Scherer,G. and Superti-Furga,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation .
Author Young ID, Zuccollo JM, Maltby EL and Broderick NJ.
Journal J. Med. Genet. 29 (4), 251-252 (1992)

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