• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.


RefSeq Accession Definition Services Price Order
NM_000051 Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000051.3, 71902539
Length 13147 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.
Product serine-protein kinase ATM
Comment

Summary: The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010].

RefSeq NP_000042.3
CDS 386..9556
Misc Feature(1)380..382
Misc Feature(2)380..382
Misc Feature(3)404..880
Misc Feature(4)404..880
Misc Feature(5)599..601
Misc Feature(6)638..640
Misc Feature(7)641..643
Misc Feature(8)1484..1486
Misc Feature(9)1484..1486
Misc Feature(10)1502..1504
Misc Feature(11)1703..1705
Misc Feature(12)4502..4531
Misc Feature(13)6062..6064
Misc Feature(14)6062..6064
Misc Feature(15)6326..6328
Misc Feature(16)6326..6328
Misc Feature(17)6332..6334
Misc Feature(18)6338..6340
Misc Feature(19)6344..6346
Misc Feature(20)6674..7852
Misc Feature(21)8432..9271
Misc Feature(22)order(8462..8464,8468..8476,8480..8482,8528..8530,
Misc Feature(23)8528..9277
Misc Feature(24)8984..9010
Misc Feature(25)9050..9118
Misc Feature(26)9371..9373
Misc Feature(27)9431..9433
Misc Feature(28)9461..9550
Exon (1)1..355
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (2)356..457
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (3)458..570
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (4)571..716
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (5)717..881
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (6)882..1047
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (7)1048..1286
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (8)1287..1450
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (9)1451..1620
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (10)1621..1992
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (11)1993..2187
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (12)2188..2283
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (13)2284..2509
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (14)2510..2635
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (15)2636..2761
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (16)2762..2851
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (17)2852..3023
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (18)3024..3223
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (19)3224..3306
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (20)3307..3462
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (21)3463..3538
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (22)3539..3669
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (23)3670..3787
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (24)3788..3961
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (25)3962..4131
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (26)4132..4378
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (27)4379..4494
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (28)4495..4621
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (29)4622..4821
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (30)4822..4996
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (31)4997..5161
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (32)5162..5294
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (33)5295..5390
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (34)5391..5562
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (35)5563..5704
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (36)5705..5881
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (37)5882..6059
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (38)6060..6147
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (39)6148..6303
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (40)6304..6391
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (41)6392..6480
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (42)6481..6583
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (43)6584..6732
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (44)6733..6837
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (45)6838..6957
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (46)6958..7192
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (47)7193..7360
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (48)7361..7474
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (49)7475..7692
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (50)7693..7900
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (51)7901..8014
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (52)8015..8173
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (53)8174..8312
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (54)8313..8395
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (55)8396..8536
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (56)8537..8653
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (57)8654..8803
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (58)8804..8969
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (59)8970..9056
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (60)9057..9171
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (61)9172..9235
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (62)9236..9372
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Exon (63)9373..13147
Gene:ATM
Gene Synonym:AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Translation MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAV FRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQEL LNYIMDTVKDSSNGAIYGADCSNILLKDILSVRKYWCEISQQQWLELFSVYFRLYLKPSQ DVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFL KTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMADICHQVFNED TRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLI SKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRCLTEVALCQDKRSNLESSQKSDL LKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVC CLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEELFLQTTFDKM DFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQLLNNYSSEITNSETLVRCSR LLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLMQCAGESITLFKNKTNEEFRIGSLRNMM QLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMED DTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYP LPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLT VIGAFWHLTKERKYIFSVRMALVNCLKTLLEADPYSKWAILNVMGKDFPVNEVFTQFLAD NHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAEN PETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLV IRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYD MLKSENLLGKQIDHLFISNLPEIVVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPH FPSHVIKATFAYISNCHKTKLKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILK IYHLFVSLLLKDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIK LLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQ LELHKDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGP IDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNI LATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRN LLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQK RPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEKRSLAFEEG SQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEA MWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCK RSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQ EPIMALRTVILEILMEKEMDNSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQ YNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRV CGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRK RFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLM YQLAARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARR SRITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKT QRKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPL SQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVF MDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINE QSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRN SQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV
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Position Chain Variation Link
3+dbSNP:
3+a, gdbSNP:111394954
58+a, tdbSNP:4987880
145+c, gdbSNP:1800065
275+a, gdbSNP:189037
312+a, gdbSNP:3205808
392+c, gdbSNP:7112053
422+c, tdbSNP:141586345
448+a, gdbSNP:199853729
471+dbSNP:
471+a, cdbSNP:147009251
479+c, tdbSNP:148061139
488+a, c, tdbSNP:55861249
510+a, gdbSNP:201773026
516+a, gdbSNP:150143957
518+c, tdbSNP:3218684
531+c, gdbSNP:1800054
547+c, tdbSNP:3218690
560..561+, gdbSNP:11457179
587+dbSNP:
587+a, gdbSNP:35389822
660+a, cdbSNP:200151849
680+a, gdbSNP:137882485
705+a, gdbSNP:142358238
719+dbSNP:
719+a, gdbSNP:146382972
726+a, gdbSNP:1442730
755+a, gdbSNP:148590073
763+a, tdbSNP:2234997
785+a, c, g, tdbSNP:2234998
797+a, gdbSNP:150661813
803+c, gdbSNP:55633650
864+c, tdbSNP:35858242
929+dbSNP:
929+c, gdbSNP:3218707
951+a, gdbSNP:79075295
954+a, tdbSNP:201159454
994+c, tdbSNP:144709948
995+a, gdbSNP:147915571
1031+g, tdbSNP:2235002
1042+c, tdbSNP:2235003
1044+c, tdbSNP:145355104
1055+dbSNP:
1055+a, gdbSNP:145053092
1072+a, gdbSNP:3218706
1088+a, gdbSNP:76379269
1098+c, tdbSNP:149116878
1101+c, tdbSNP:143198946
1120+c, tdbSNP:3218674
1134+a, gdbSNP:56123940
1237+a, gdbSNP:140367473
1243+a, gdbSNP:145301478
1246+c, tdbSNP:55849405
1251+c, tdbSNP:35261362
1287+dbSNP:
1287+a, gdbSNP:202208861
1331+c, tdbSNP:142317485
1383+c, tdbSNP:28904919
1394+c, tdbSNP:138398778
1395+a, gdbSNP:202160435
1406+a, gdbSNP:200601781
1408+c, gdbSNP:35728619
1458+dbSNP:
1458+a, gdbSNP:149636614
1465+c, tdbSNP:199869975
1471+a, gdbSNP:142591268
1523+a, tdbSNP:34083085
1561+c, gdbSNP:1800727
1614+c, tdbSNP:56128736
1621+dbSNP:
1621+g, tdbSNP:79220522
1639+a, gdbSNP:4987943
1656+a, cdbSNP:147472613
1657+c, tdbSNP:35578748
1714+a, cdbSNP:201460863
1736+c, tdbSNP:201719927
1740+c, tdbSNP:201333862
1759+, cdbSNP:67354798
1765+c, gdbSNP:145333518
1829+a, cdbSNP:202173660
1873+c, tdbSNP:1800737
1896+a, gdbSNP:56365018
1926+a, gdbSNP:2235000
1980+a, gdbSNP:35963548
2021+dbSNP:
2021+c, gdbSNP:2227924
2033+a, gdbSNP:202144949
2045+a, gdbSNP:1060788
2088+g, tdbSNP:200381392
2129+c, tdbSNP:2235006
2131+c, tdbSNP:145629926
2134+c, tdbSNP:140321514
2158+c, tdbSNP:61734356
2195+dbSNP:
2195+c, tdbSNP:2227922
2222+g, tdbSNP:200124136
2240+a, cdbSNP:140882609
2272+c, tdbSNP:143097772
2273+a, gdbSNP:148191382
2328+dbSNP:
2328+c, tdbSNP:141175037
2371+c, tdbSNP:1800055
2406+a, gdbSNP:201762714
2481+a, gdbSNP:147934285
2504+c, tdbSNP:4986761
2507+a, gdbSNP:183202787
2512+dbSNP:
2512+c, tdbSNP:56252953
2533+c, gdbSNP:1800701
2534+c, tdbSNP:147515380
2544+a, gdbSNP:55830714
2560+c, tdbSNP:140110298
2578+c, tdbSNP:2229019
2605+a, gdbSNP:56353517
2635+c, gdbSNP:1137887
2645+dbSNP:
2645+a, cdbSNP:3205809
2660+a, gdbSNP:148705269
2666+a, tdbSNP:2235011
2674+a, tdbSNP:34231402
2747+g, tdbSNP:641252
2771+dbSNP:
2771+a, tdbSNP:201793499
2781+c, tdbSNP:199954262
2813+a, gdbSNP:201909756
2819+a, gdbSNP:112357985
2827+a, cdbSNP:3218695
2879+dbSNP:
2879+c, tdbSNP:2229022
2880+a, gdbSNP:199875915
2891+a, gdbSNP:141054982
2957+c, tdbSNP:1800056
2991+c, g, tdbSNP:145513717
2993+a, gdbSNP:61734354
2999+c, tdbSNP:3218673
3045+dbSNP:
3045+a, gdbSNP:3205810
3064+a, gdbSNP:139316519
3066+a, gdbSNP:113482790
3070+a, gdbSNP:3218687
3074+a, tdbSNP:147122522
3083+a, gdbSNP:138468963
3126+a, gdbSNP:141947469
3155+c, tdbSNP:55723361
3183+c, gdbSNP:56087610
3188+a, gdbSNP:35813135
3189+c, g, tdbSNP:3218708
3190+c, g, tdbSNP:55934812
3209+c, tdbSNP:3218688
3274+dbSNP:
3274+a, gdbSNP:35098825
3312+dbSNP:
3312+c, tdbSNP:146145357
3317+c, tdbSNP:139552233
3352+c, tdbSNP:144145128
3367+c, tdbSNP:200541844
3377+a, gdbSNP:199635238
3393+a, tdbSNP:1064815
3399+a, gdbSNP:146531614
3401+a, gdbSNP:139893395
3444+a, cdbSNP:186626274
3502+a, gdbSNP:55784207
3503+a, gdbSNP:3092857
3523+g, tdbSNP:3092858
3535+c, tdbSNP:3092859
3546+dbSNP:
3546+c, gdbSNP:1800057
3574+a, cdbSNP:76122065
3575+a, tdbSNP:79431304
3625+a, cdbSNP:149911447
3641+c, tdbSNP:201780199
3651+c, tdbSNP:1142018
3666+a, gdbSNP:199883473
3684+dbSNP:
3684+c, gdbSNP:189445371
3689+a, gdbSNP:147557621
3699+c, tdbSNP:141999815
3713+a, gdbSNP:147112946
3727+a, gdbSNP:138393322
3763+a, gdbSNP:149182949
3768+a, gdbSNP:2229020
3843+dbSNP:
3843+g, tdbSNP:12788418
3853+a, gdbSNP:148358896
3864+g, tdbSNP:12788427
3867+g, tdbSNP:12788429
3890+a, gdbSNP:200765255
3902+c, tdbSNP:141460670
3918+a, gdbSNP:146345036
3943+a, cdbSNP:12786957
3948+a, cdbSNP:12786960
3985+dbSNP:
3985+c, tdbSNP:56342865
4013+a, gdbSNP:138212452
4014+c, tdbSNP:192572042
4024+c, tdbSNP:142766756
4057+c, tdbSNP:3205813
4079+c, tdbSNP:183532834
4191+dbSNP:
4191+a, gdbSNP:146017595
4284+a, gdbSNP:183263185
4303+c, tdbSNP:139632347
4310+a, gdbSNP:149711770
4316+c, tdbSNP:200976093
4322+c, gdbSNP:3092841
4348+a, gdbSNP:35184530
4349+a, cdbSNP:144535256
4427+dbSNP:
4427+c, tdbSNP:56355831
4445+a, cdbSNP:145119475
4451+a, gdbSNP:147600485
4466+c, tdbSNP:121434222
4467+a, gdbSNP:141921797
4523+dbSNP:
4523+c, tdbSNP:3092856
4529+c, tdbSNP:55859590
4531+a, gdbSNP:147738621
4533+c, tdbSNP:141087784
4552+a, gdbSNP:183214437
4643+dbSNP:
4643+c, tdbSNP:1800058
4664+a, gdbSNP:2229021
4677+a, gdbSNP:201356803
4709+c, tdbSNP:201666889
4747+a, cdbSNP:148993589
4760+a, gdbSNP:145667735
4773+g, tdbSNP:138327406
4783+a, gdbSNP:142728382
4801+a, gdbSNP:201526888
4809+a, gdbSNP:34640941
4824+dbSNP:
4824+c, tdbSNP:200456625
4830+a, gdbSNP:201277352
4851+g, tdbSNP:201594549
4858+c, tdbSNP:4988008
4946+c, gdbSNP:141329176
4952+a, gdbSNP:113854991
4963+c, tdbSNP:1800889
5008+dbSNP:
5008+g, tdbSNP:3092849
5094+c, tdbSNP:140856217
5116+c, tdbSNP:145236132
5153+c, tdbSNP:35962982
5212+dbSNP:
5212+a, cdbSNP:681479
5244+a, cdbSNP:681518
5256+a, gdbSNP:56354559
5302+dbSNP:
5302+a, gdbSNP:140425622
5316+c, tdbSNP:55843558
5334+a, gdbSNP:55870064
5362+a, tdbSNP:199888434
5365+c, tdbSNP:144338238
5429+dbSNP:
5429+c, gdbSNP:121434217
5441+a, gdbSNP:145453814
5448+c, tdbSNP:199836342
5456+a, cdbSNP:1800059
5474+a, gdbSNP:142455912
5503+a, gdbSNP:3218672
5541+a, gdbSNP:183531638
5570+dbSNP:
5570+c, gdbSNP:3092907
5663+a, gdbSNP:151327241
5679+a, cdbSNP:35556390
5694+c, gdbSNP:121434223
5737+dbSNP:
5737+c, tdbSNP:140641762
5767+c, gdbSNP:188362115
5817+a, gdbSNP:149569091
5820+c, tdbSNP:199885813
5874+c, tdbSNP:145812395
5929+dbSNP:
5929+c, tdbSNP:146568734
5935+a, gdbSNP:35850088
5936+c, gdbSNP:200842502
5942+a, gdbSNP:1801516
5943+a, tdbSNP:1801673
5946+c, gdbSNP:138710254
5969+c, tdbSNP:149362482
6015+a, tdbSNP:202028401
6113+dbSNP:
6113+a, cdbSNP:143577586
6138+c, gdbSNP:148064985
6178+dbSNP:
6178+c, tdbSNP:3092910
6206+c, gdbSNP:147187700
6267+a, gdbSNP:56399311
6275+a, gdbSNP:201963507
6333+dbSNP:
6333+a, gdbSNP:659243
6360+a, cdbSNP:150757822
6379+a, tdbSNP:56046250
6389+c, tdbSNP:201136510
6410+dbSNP:
6410+c, tdbSNP:199586999
6427+a, gdbSNP:138987778
6449+a, gdbSNP:35991214
6452+a, gdbSNP:11212587
6473+a, gdbSNP:145847315
6480+a, gdbSNP:139770721
6486+dbSNP:
6486+a, gdbSNP:3218670
6493+c, tdbSNP:3092826
6539+a, gdbSNP:202206540
6561+c, tdbSNP:144761622
6620+dbSNP:
6620+a, gdbSNP:1800060
6664+c, tdbSNP:141370828
6718+c, tdbSNP:55756349
6822+dbSNP:
6822+c, gdbSNP:56815840
6850+dbSNP:
6850+a, gdbSNP:140423883
6860+g, tdbSNP:150408832
6871+c, tdbSNP:138166710
6888+c, tdbSNP:200431631
6911+c, tdbSNP:143715818
6922+g, tdbSNP:146243469
6924+g, tdbSNP:199587409
6928+g, tdbSNP:138828590
7095+dbSNP:
7095+a, cdbSNP:35118109
7180+c, tdbSNP:3218699
7181+a, cdbSNP:45481995
7203+dbSNP:
7203+, gdbSNP:67319469
7245+c, gdbSNP:1800061
7273+a, tdbSNP:200735689
7282+c, tdbSNP:142808029
7304+c, tdbSNP:56009889
7359+c, tdbSNP:200940211
7373+dbSNP:
7373+c, gdbSNP:148432863
7380+c, tdbSNP:4988111
7383+a, cdbSNP:150503164
7389+a, c, tdbSNP:3092831
7421+a, gdbSNP:144497088
7423+a, tdbSNP:146167034
7429+a, gdbSNP:140104789
7447+a, gdbSNP:143489373
7501+dbSNP:
7501+c, tdbSNP:3218675
7559+c, tdbSNP:149827260
7609+a, gdbSNP:145747513
7613+c, tdbSNP:193302874
7653+a, gdbSNP:121434221
7656+g, tdbSNP:28904921
7659+g, tdbSNP:148949644
7698+dbSNP:
7698+c, tdbSNP:147604227
7699+a, cdbSNP:199909913
7712+c, tdbSNP:121434220
7748+c, tdbSNP:147665149
7766+c, tdbSNP:201314561
7775+c, tdbSNP:55801750
7843+a, gdbSNP:1060793
7860+g, tdbSNP:56399857
7879+c, tdbSNP:34393781
7901+dbSNP:
7901+a, gdbSNP:200441272
7916+a, tdbSNP:146069748
8003+a, gdbSNP:35203200
8094+dbSNP:
8094+a, gdbSNP:28904920
8125+a, cdbSNP:199915459
8147+c, tdbSNP:186666661
8170+c, tdbSNP:34838175
8177+dbSNP:
8177+c, tdbSNP:138941496
8178+a, gdbSNP:140263969
8193+a, gdbSNP:150355232
8220+a, gdbSNP:138048269
8222+a, gdbSNP:113798048
8260..8261+gc, tgdbSNP:267606668
8261+c, gdbSNP:267606669
8289+, cdbSNP:66503349
8304+c, tdbSNP:4988125
8352+dbSNP:
8352+c, tdbSNP:121434218
8368+c, tdbSNP:143972422
8384+a, gdbSNP:34099398
8415+dbSNP:
8415+a, gdbSNP:28942103
8494+c, tdbSNP:201689025
8510+a, gdbSNP:3218680
8540+dbSNP:
8540+c, tdbSNP:138526014
8541+a, gdbSNP:55982963
8614+a, gdbSNP:150603052
8628+c, gdbSNP:75305387
8655+dbSNP:
8655+g, tdbSNP:201216427
8770..8779+, tttcagtgccdbSNP:71855130
8770+, tttcagtgccdbSNP:71952922
8865+dbSNP:
8865+g, tdbSNP:121434216
8943+c, tdbSNP:141534716
8945+c, tdbSNP:201958469
8950+a, tdbSNP:146140771
8951+a, gdbSNP:140188600
8977+dbSNP:
8977+c, tdbSNP:56025670
8993+a, gdbSNP:55798854
9105+dbSNP:
9105+c, tdbSNP:56887719
9131+a, gdbSNP:150874041
9280+dbSNP:
9280+c, gdbSNP:200899512
9306+c, tdbSNP:139379666
9330+c, gdbSNP:150008868
9350+c, gdbSNP:147695170
9353+a, g, tdbSNP:1800558
9368+a, cdbSNP:142322668
9392+dbSNP:
9392+a, gdbSNP:1137889
9393+a, gdbSNP:144636562
9441+g, tdbSNP:191796763
9450+, adbSNP:56253573
9471+a, gdbSNP:201199629
9478+a, gdbSNP:1060795
9524+c, tdbSNP:121434219
9585+c, gdbSNP:3218711
9600+a, gdbSNP:55900855
9761+c, tdbSNP:147355837
9792+c, tdbSNP:3092834
9793+a, gdbSNP:185904823
9828+a, gdbSNP:190023130
9927+a, gdbSNP:3092835
9957+a, gdbSNP:1137918
10078+, adbSNP:11300035
10104+g, tdbSNP:227092
10107+c, tdbSNP:143531724
10240+g, tdbSNP:3092837
10259+a, gdbSNP:118179262
10331+a, gdbSNP:12284748
10335+g, tdbSNP:78327467
10377+a, gdbSNP:12284801
10444..10445+, tdbSNP:200629108
10527+c, tdbSNP:182586193
10783+c, tdbSNP:187308124
10983+c, tdbSNP:3092836
11076+c, tdbSNP:112426029
11160+c, tdbSNP:227091
11295+a, gdbSNP:190315580
11326+c, tdbSNP:183326487
11347+, tdbSNP:72025090
11355+c, tdbSNP:114847811
11412+c, tdbSNP:188684253
11438+c, gdbSNP:80226715
11459+a, gdbSNP:193021589
11530+c, gdbSNP:148781946
11634..11635+, adbSNP:34005617
11636+c, tdbSNP:142456486
11714+c, tdbSNP:151333766
11755+c, gdbSNP:75959910
11776+a, gdbSNP:75293772
11780+c, tdbSNP:139245552
11845+c, tdbSNP:3092838
11890+c, tdbSNP:3092839
11918+c, tdbSNP:185852664
12119+c, tdbSNP:146547907
12203+a, gdbSNP:141276913
12270+g, tdbSNP:2905096
12274+c, tdbSNP:11558525
12283+c, tdbSNP:378840
12322+a, gdbSNP:453848
12398+a, gdbSNP:186644530
12422+c, tdbSNP:191399133
12578+c, gdbSNP:145076930
12598+c, tdbSNP:183664907
12628+c, tdbSNP:3092844
12649+c, tdbSNP:79807288
12692+a, gdbSNP:3092845
12760+a, gdbSNP:181377742
12786+c, tdbSNP:3092852
12949+g, tdbSNP:4585
12951+a, gdbSNP:4987113
12961+c, tdbSNP:11558526
12969+c, tdbSNP:4987114
12984+c, tdbSNP:182082753
Gene SymbolATM
Gene SynonymAT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1
Chromosome11
Locus Map11q22-q23
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000051 Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. Full Length Quote
ORF Sequence Quote
Title ATM polymorphisms predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy .
Author Xiong,H., Liao,Z., Liu,Z., Xu,T., Wang,Q., Liu,H., Komaki,R., Gomez,D., Wang,L.E. and Wei,Q.
Journal Int. J. Radiat. Oncol. Biol. Phys. 85 (4), 1066-1073 (2013)
Title BAL1 and its partner E3 ligase, BBAP, link Poly(ADP-ribose) activation, ubiquitylation, and double-strand DNA repair independent of ATM, MDC1, and RNF8 .
Author Yan,Q., Xu,R., Zhu,L., Cheng,X., Wang,Z., Manis,J. and Shipp,M.A.
Journal Mol. Cell. Biol. 33 (4), 845-857 (2013)
Title Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity .
Author Menotta,M., Biagiotti,S., Bianchi,M., Chessa,L. and Magnani,M.
Journal J. Biol. Chem. 287 (49), 41352-41363 (2012)
Title Phospho-DeltaNp63alpha/SREBF1 protein interactions: bridging cell metabolism and cisplatin chemoresistance .
Author Huang,Y., Bell,L.N., Okamura,J., Kim,M.S., Mohney,R.P., Guerrero-Preston,R. and Ratovitski,E.A.
Journal Cell Cycle 11 (20), 3810-3827 (2012)
Title Quantitative proteomics reveal ATM kinase-dependent exchange in DNA damage response complexes .
Author Choi,S., Srivas,R., Fu,K.Y., Hood,B.L., Dost,B., Gibson,G.A., Watkins,S.C., Van Houten,B., Bandeira,N., Conrads,T.P., Ideker,T. and Bakkenist,C.J.
Journal J. Proteome Res. 11 (10), 4983-4991 (2012)
Title The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor .
Author Brzoska,P.M., Chen,H., Zhu,Y., Levin,N.A., Disatnik,M.H., Mochly-Rosen,D., Murnane,J.P. and Christman,M.F.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (17), 7824-7828 (1995)
Title Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome .
Author Nagai,T., Nishimura,G., Kato,R., Hasegawa,T., Ohashi,H. and Fukushima,Y.
Journal Am. J. Med. Genet. 55 (1), 16-18 (1995)
Title Comparison of collagen propeptides as growth markers in children with inflammatory bowel disease .
Author Hyams,J.S., Treem,W.R., Carey,D.E., Wyzga,N., Eddy,E., Goldberg,B.D. and Moore,R.E.
Journal Gastroenterology 100 (4), 971-975 (1991)
Title ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome .
Author Curry,C.J., O'Lague,P., Tsai,J., Hutchison,H.T., Jaspers,N.G., Wara,D. and Gatti,R.A.
Journal Am. J. Hum. Genet. 45 (2), 270-275 (1989)
Title Localization of an ataxia-telangiectasia gene to chromosome 11q22-23 .
Author Gatti,R.A., Berkel,I., Boder,E., Braedt,G., Charmley,P., Concannon,P., Ersoy,F., Foroud,T., Jaspers,N.G., Lange,K. et al.
Journal Nature 336 (6199), 577-580 (1988)

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