• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu54189 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54189C Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. Customized vector On-demand $3749.00 TBD

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000489.4, 530788275
Length 7479 bp
Structure linear
Update Date 11-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.
Product transcriptional regulator ATRX isoform 1
Comment

Summary: The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013].


Transcript Variant: This variant (1) encodes the longest isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000480.3
CDS 269..7747
Misc Feature(1)167..169
Misc Feature(2)368..370
Misc Feature(3)368..370
Misc Feature(4)533..535
Misc Feature(5)542..544
Misc Feature(6)602..604
Misc Feature(7)749..1135
Misc Feature(8)order(779..781,785..790,857..859,866..868,926..928,
Misc Feature(9)order(902..904,908..910,917..919,944..961,989..991,
Misc Feature(10)2009..2050
Misc Feature(11)2039..2041
Misc Feature(12)2048..2050
Misc Feature(13)2060..2062
Misc Feature(14)2168..2170
Misc Feature(15)2288..2290
Misc Feature(16)2291..2293
Misc Feature(17)2297..2299
Misc Feature(18)2453..2455
Misc Feature(19)2459..2461
Misc Feature(20)2891..2893
Misc Feature(21)2894..2896
Misc Feature(22)2933..2935
Misc Feature(23)3167..3169
Misc Feature(24)3449..3451
Misc Feature(25)3455..3457
Misc Feature(26)4232..4234
Misc Feature(27)4238..4240
Misc Feature(28)4244..4246
Misc Feature(29)4310..4312
Misc Feature(30)4322..4324
Misc Feature(31)4847..4849
Misc Feature(32)4955..5935
Misc Feature(33)5030..5518
Misc Feature(34)5057..5071
Misc Feature(35)5423..5434
Misc Feature(36)5423..5434
Misc Feature(37)6242..6244
Misc Feature(38)6254..6256
Misc Feature(39)6317..6757
Misc Feature(40)order(6392..6403,6521..6526,6617..6625)
Misc Feature(41)order(6641..6643,6704..6706,6716..6718,6725..6727)
Misc Feature(42)6926..6928
Exon (1)1..288
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (2)289..401
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (3)402..457
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (4)458..510
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (5)511..638
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (6)639..752
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (7)753..862
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (8)863..930
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (9)931..4004
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (10)4005..4077
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (11)4078..4211
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (12)4212..4388
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (13)4389..4482
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (14)4483..4585
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (15)4586..4825
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (16)4826..4967
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (17)4968..5077
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (18)5078..5224
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (19)5225..5402
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (20)5403..5540
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (21)5541..5716
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (22)5717..5834
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (23)5835..5965
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (24)5966..6054
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (25)6055..6224
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (26)6225..6378
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (27)6379..6485
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (28)6486..6594
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (29)6595..6772
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (30)6773..6967
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (31)6968..7117
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (32)7118..7243
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (33)7244..7339
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (34)7340..7468
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (35)7469..11220
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Translation MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENS KEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQS LPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNH FQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFC KKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKV DSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLI ETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPT EEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQS SVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPI KGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVK TTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSK QSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRK RKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTT IMELRDRLPKKQQASASTDGVDKLSGKEESFTSLEVRKVAETKEKSKHLKTKTCKKVQDG LSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLP EREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDK KSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNL SSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADI TSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQV NSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSE DSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKS NSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEE EERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKL KPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFS TALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRS RRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVM KKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNN SEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSM SLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVS LKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVF SQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPV YVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNS EKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEA EKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATN SVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQM LISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMY QPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM
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Position Chain Variation Link
complement(27)-dbSNP:
complement(27)-t, gdbSNP:374021276
49+c, tdbSNP:45476399
complement(150)-g, adbSNP:112273536
complement(235)-t, cdbSNP:375266058
complement(247)-t, cdbSNP:371364138
255+a, gdbSNP:45472092
complement(364)-dbSNP:
complement(364)-t, cdbSNP:199948087
377+c, tdbSNP:122445108
complement(382)-c, adbSNP:201353033
complement(386)-t, cdbSNP:149990714
complement(496)-dbSNP:
complement(496)-t, cdbSNP:5959371
504+c, gdbSNP:122445107
complement(521)-dbSNP:
complement(521)-t, cdbSNP:150801485
556+a, gdbSNP:45574238
731..742+dbSNP:
731..742+gaaaatctcaaa, tdbSNP:398123424
complement(769)-dbSNP:
complement(769)-t, cdbSNP:139919697
804+a, gdbSNP:398123425
complement(814)-t, cdbSNP:375794120
836+c, gdbSNP:122445103
complement(838)-c, adbSNP:188831993
916+dbSNP:
916+g, tdbSNP:45572441
927+a, gdbSNP:122445111
complement(980)-dbSNP:
complement(980)-t, cdbSNP:369654926
1004+c, tdbSNP:122445105
complement(1066)-g, adbSNP:376341197
complement(1088)-g, adbSNP:146012355
complement(1099)-g, adbSNP:142561199
complement(1114)-g, adbSNP:148015780
complement(1227)-g, cdbSNP:201301590
complement(1300)-g, adbSNP:143491422
complement(1301)-t, cdbSNP:149249195
complement(1309)-c, adbSNP:199780997
complement(1315)-g, cdbSNP:200288042
complement(1378)-g, adbSNP:371831155
complement(1422)-g, adbSNP:138366560
complement(1436)-g, adbSNP:150484080
complement(1437)-t, cdbSNP:367986587
1494+c, tdbSNP:122445109
complement(1513)-g, adbSNP:141815992
complement(1524)-g, adbSNP:374958282
complement(1525)-t, cdbSNP:185550133
complement(1571)-t, cdbSNP:371580333
complement(1652)-t, cdbSNP:201503118
complement(1654)-g, adbSNP:367596462
complement(1658)-g, cdbSNP:202011714
complement(1691)-g, cdbSNP:146863015
1732+c, tdbSNP:3134917
complement(1735)-g, adbSNP:199929884
complement(1774)-g, adbSNP:112173609
complement(1789)-t, gdbSNP:192674093
1790+a, cdbSNP:398123421
complement(1834)-g, cdbSNP:374670846
complement(1885)-t, cdbSNP:151072312
complement(1901)-g, cdbSNP:35738915
complement(1913)-t, cdbSNP:148513102
complement(1916)-t, cdbSNP:201284965
complement(1939)-c, adbSNP:376761153
1961+a, gdbSNP:45528831
2054+c, tdbSNP:1051678
complement(2066)-t, cdbSNP:375129029
complement(2093)-g, cdbSNP:186742436
complement(2136)-t, cdbSNP:145678415
complement(2148)-t, cdbSNP:370584074
complement(2179)-g, cdbSNP:143492266
2230+a, gdbSNP:1051679
complement(2268)-g, adbSNP:61752457
complement(2269)-t, cdbSNP:139997330
complement(2390)-t, cdbSNP:375900706
complement(2418)-g, adbSNP:372617572
complement(2437)-g, cdbSNP:61752456
2487+a, gdbSNP:1051680
complement(2492)-t, cdbSNP:368980616
complement(2580)-g, adbSNP:376906761
complement(2581)-t, cdbSNP:373458498
complement(2734)-t, gdbSNP:200040756
complement(2766)-g, adbSNP:182402019
complement(2787)-c, adbSNP:191682105
complement(2798)-t, cdbSNP:142601264
complement(2799)-t, gdbSNP:139131007
2808+c, tdbSNP:45624939
complement(2863)-g, cdbSNP:61752455
complement(2877)-g, adbSNP:143558145
complement(2887)-t, cdbSNP:183498404
complement(2891)-g, adbSNP:370074271
complement(2918)-t, cdbSNP:200343648
complement(2926)-g, cdbSNP:141180098
complement(2948)-t, gdbSNP:145807475
complement(2965)-t, cdbSNP:137974888
complement(2988)-t, cdbSNP:143413618
complement(3032)-t, cdbSNP:373581602
complement(3043)-g, adbSNP:139376742
3053+c, gdbSNP:3088074
complement(3074)-g, cdbSNP:149232501
complement(3083)-g, cdbSNP:149195735
complement(3107)-t, adbSNP:35368973
complement(3166)-c, adbSNP:138256318
complement(3167..3168)-, gtgdbSNP:200211129
complement(3191)-t, cdbSNP:200709847
complement(3203)-g, cdbSNP:150429841
complement(3236)-t, cdbSNP:376883807
complement(3247)-c, adbSNP:371962239
complement(3310)-g, adbSNP:140476563
complement(3318)-t, cdbSNP:56131991
complement(3335)-g, cdbSNP:367700285
complement(3426)-t, gdbSNP:151273832
complement(3447)-c, adbSNP:375733148
complement(3479)-t, cdbSNP:143621153
complement(3490)-c, adbSNP:141202854
complement(3549)-t, cdbSNP:146521598
3589+c, tdbSNP:1051681
3655+a, gdbSNP:3761507
complement(3705)-g, cdbSNP:368828845
complement(3795)-t, adbSNP:191563592
complement(3809)-g, cdbSNP:61758732
complement(3891)-g, adbSNP:374291079
complement(3892)-t, cdbSNP:370693515
complement(3906)-t, gdbSNP:148456985
complement(3909)-t, adbSNP:144527582
3955+a, c, gdbSNP:1051682
complement(4062)-dbSNP:
complement(4062)-t, cdbSNP:371187842
complement(4069)-g, adbSNP:149717199
complement(4116)-dbSNP:
complement(4116)-t, cdbSNP:201588422
complement(4156)-t, cdbSNP:139540415
complement(4246)-dbSNP:
complement(4246)-t, cdbSNP:369658928
complement(4255)-t, cdbSNP:147160114
complement(4303)-t, cdbSNP:111725949
complement(4315)-g, adbSNP:199625659
complement(4330)-t, adbSNP:113595401
complement(4424)-dbSNP:
complement(4424)-t, cdbSNP:137867958
complement(4445)-t, cdbSNP:147331649
complement(4486)-dbSNP:
complement(4486)-g, adbSNP:112657099
complement(4507)-t, cdbSNP:141974120
complement(4561)-t, cdbSNP:148142375
4645..4647+dbSNP:
4645..4647+, ggadbSNP:398123423
complement(4663)-g, adbSNP:143785452
complement(4785)-c, adbSNP:181244850
complement(4810)-t, cdbSNP:372133964
complement(4903)-t, gdbSNP:148975763
complement(4927)-t, cdbSNP:25641
5094+dbSNP:
5094+a, gdbSNP:122445093
5108+c, tdbSNP:122445094
5130+c, tdbSNP:122445106
complement(5134)-t, cdbSNP:145036475
5218+a, g, tdbSNP:122445095
complement(5269)-g, adbSNP:202114901
5331+a, tdbSNP:45576533
complement(5389)-g, adbSNP:111870513
5399+c, tdbSNP:122445102
5493+dbSNP:
5493+a, gdbSNP:122445104
complement(5539)-t, cdbSNP:141240580
complement(5611)-dbSNP:
complement(5611)-t, cdbSNP:146534157
complement(5617)-t, cdbSNP:149960511
complement(5702)-c, adbSNP:61752453
complement(5811)-dbSNP:
complement(5811)-t, cdbSNP:369214384
5847+a, gdbSNP:45439799
complement(5857)-g, adbSNP:192385704
complement(5859)-c, adbSNP:151220806
6152+a, tdbSNP:398123426
complement(6236)-dbSNP:
complement(6236)-t, adbSNP:142180002
complement(6259)-t, cdbSNP:190170999
complement(6304)-t, cdbSNP:376679217
6372+a, tdbSNP:122445096
6417+dbSNP:
6417+c, tdbSNP:122445110
complement(6475)-g, adbSNP:369953134
6518+dbSNP:
6518+c, tdbSNP:122445097
complement(6598)-dbSNP:
complement(6598)-t, cdbSNP:368051003
6660+a, gdbSNP:122445101
complement(6673)-g, adbSNP:148659669
complement(6743)-g, cdbSNP:199928157
complement(6754)-t, cdbSNP:374952152
6756+a, gdbSNP:122445098
complement(6898)-g, adbSNP:147169853
7045+dbSNP:
7045+c, gdbSNP:398123427
7079+a, gdbSNP:122445112
complement(7101)-t, adbSNP:189056841
complement(7120)-dbSNP:
complement(7120)-t, cdbSNP:145101346
complement(7137)-t, cdbSNP:368498507
complement(7139)-t, cdbSNP:374244026
complement(7141)-t, cdbSNP:192057045
complement(7192)-g, adbSNP:139457986
complement(7312)-t, cdbSNP:375935735
complement(7321)-g, cdbSNP:200762828
complement(7351)-dbSNP:
complement(7351)-g, adbSNP:3027525
complement(7379)-t, cdbSNP:147341551
7424+c, tdbSNP:122445099
7430+g, tdbSNP:122445100
complement(7441)-g, adbSNP:112385254
complement(7588)-t, cdbSNP:149242238
7662+, gdbSNP:398123428
complement(7700)-g, cdbSNP:199543136
complement(7703)-t, cdbSNP:200478641
complement(7707)-t, cdbSNP:369871569
complement(7734)-t, cdbSNP:192340482
7801+c, tdbSNP:1051686
complement(7859)-g, adbSNP:187723317
complement(7960)-g, adbSNP:3027524
complement(8652)-c, adbSNP:184866222
complement(8655)-g, adbSNP:191191299
complement(8779)-t, cdbSNP:186766068
complement(8826)-g, adbSNP:111765955
8988+a, gdbSNP:3134920
complement(9147)-t, gdbSNP:141454165
complement(9159)-t, gdbSNP:147763977
complement(9200)-, tdbSNP:139948612
complement(9282)-t, cdbSNP:183122923
complement(9385)-t, cdbSNP:6623513
complement(9636)-t, cdbSNP:191264448
complement(9879)-g, cdbSNP:377500551
9944+a, gdbSNP:3134921
10054+a, tdbSNP:3135467
complement(10518)-g, adbSNP:188467001
complement(10606)-g, adbSNP:183405599
complement(10651)-t, cdbSNP:373345321
complement(10682..10686)-, taaaadbSNP:201988178
complement(10794)-g, adbSNP:368976967
complement(11089)-g, adbSNP:375876051
complement(11164..11166)-, tgtdbSNP:3830891
complement(11167..11169)-, tgtdbSNP:199959934
Gene SymbolATRX
Gene SynonymATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
ChromosomeX
Locus MapXq21.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000489 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. On-demand TBD TBD
NM_138270 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 2, mRNA. On-demand TBD TBD
XM_005262153 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X1, mRNA. On-demand TBD TBD
XM_005262154 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X2, mRNA. On-demand TBD TBD
XM_005262155 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X3, mRNA. On-demand TBD TBD
XM_006724666 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X6, mRNA. On-demand TBD TBD
XM_005262156 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X4, mRNA. On-demand TBD TBD
XM_005262157 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X5, mRNA. On-demand TBD TBD
XM_006724667 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X7, mRNA. On-demand TBD TBD
XM_006724668 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X8, mRNA. On-demand TBD TBD
Title Clinical Neuropathology practice news 2-2014: ATRX, a new candidate biomarker in gliomas .
Author Haberler C and Wohrer A.
Journal Clin. Neuropathol. 33 (2), 108-111 (2014)
Title Loss of DAXX and ATRX are associated with chromosome instability and reduced survival of patients with pancreatic neuroendocrine tumors .
Author Marinoni I, Kurrer AS, Vassella E, Dettmer M, Rudolph T, Banz V, Hunger F, Pasquinelli S, Speel EJ and Perren A.
Journal Gastroenterology 146 (2), 453-460 (2014)
Title Clinicopathologic significance of immunostaining of alpha-thalassemia/mental retardation syndrome X-linked protein and death domain-associated protein in neuroendocrine tumors .
Author Chen SF, Kasajima A, Yazdani S, Chan MS, Wang L, He YY, Gao HW and Sasano H.
Journal Hum. Pathol. 44 (10), 2199-2203 (2013)
Title Mutations in the chromatin-associated protein ATRX .
Author Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID and Traeger-Synodinos J.
Journal Hum. Mutat. 29 (6), 796-802 (2008)
Title Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome .
Author Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C and Fontes M.
Journal J. Med. Genet. 36 (3), 183-186 (1999)
Title Cloning and characterization of a new human Xq13 gene, encoding a putative helicase .
Author Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, Bossolasco M, Monaco L, Rastan S and Boncinelli E.
Journal Hum. Mol. Genet. 3 (11), 1957-1964 (1994)
Title Alpha-Thalassemia X-Linked Intellectual Disability Syndrome .
Author Stevenson,R.E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis .
Author Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ and Higgs DR.
Journal Am. J. Hum. Genet. 51 (5), 1136-1149 (1992)
Title Nomenclature guidelines for X-linked mental retardation .
Author Mulley JC, Kerr B, Stevenson R and Lubs H.
Journal Am. J. Med. Genet. 43 (1-2), 383-391 (1992)
Title Smith-Fineman-Myers syndrome in two brothers .
Author Ades LC, Kerr B, Turner G and Wise G.
Journal Am. J. Med. Genet. 40 (4), 467-470 (1991)

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