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  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens huntingtin (HTT), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23699 Homo sapiens huntingtin (HTT), mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu23699C Homo sapiens huntingtin (HTT), mRNA. Customized vector On-demand TBD TBD

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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_002111.7, 588282786
Length 9435 bp
Structure linear
Update Date 11-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens huntingtin (HTT), mRNA.
Product huntingtin
Comment

Summary: Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly except in the CAG repeat region. The reference genome has a repeat region encoding 21 glutamines while the RefSeq has a repeat region (nt 197-265) encoding 23. Neither repeat region is associated with Huntington's Disease.

RefSeq NP_002102.4
CDS 317..9751
Misc Feature(1)172
Misc Feature(2)182
Misc Feature(3)192..257
Misc Feature(4)323..355
Misc Feature(5)323..355
Misc Feature(6)341..343
Misc Feature(7)848..850
Misc Feature(8)932..1045
Misc Feature(9)1022..1024
Misc Feature(10)1058..1171
Misc Feature(11)1268..1402
Misc Feature(12)1349..1351
Misc Feature(13)1553..1555
Misc Feature(14)1577..1579
Misc Feature(15)1607..1609
Misc Feature(16)1616..1618
Misc Feature(17)1616..1618
Misc Feature(18)1646..1648
Misc Feature(19)1853..1858
Misc Feature(20)1853..1855
Misc Feature(21)1904..1909
Misc Feature(22)1970..1975
Misc Feature(23)1970..1972
Misc Feature(24)2072..2074
Misc Feature(25)2081..2086
Misc Feature(26)2726..2839
Misc Feature(27)3026..3142
Misc Feature(28)3857..3859
Misc Feature(29)3857..3859
Misc Feature(30)3905..3907
Misc Feature(31)3917..3919
Misc Feature(32)3917..3919
Misc Feature(33)4853..4981
Misc Feature(34)5930..5932
Misc Feature(35)5942..5944
Misc Feature(36)6542..6544
Misc Feature(37)7505..7534
Misc Feature(38)8273..8275
Exon (1)1..585
Gene:HTT
Gene Synonym:HD; IT15
Exon (2)586..669
Gene:HTT
Gene Synonym:HD; IT15
Exon (3)670..790
Gene:HTT
Gene Synonym:HD; IT15
Exon (4)791..850
Gene:HTT
Gene Synonym:HD; IT15
Exon (5)851..930
Gene:HTT
Gene Synonym:HD; IT15
Exon (6)931..1069
Gene:HTT
Gene Synonym:HD; IT15
Exon (7)1070..1211
Gene:HTT
Gene Synonym:HD; IT15
Exon (8)1212..1390
Gene:HTT
Gene Synonym:HD; IT15
Exon (9)1391..1595
Gene:HTT
Gene Synonym:HD; IT15
Exon (10)1596..1643
Gene:HTT
Gene Synonym:HD; IT15
Exon (11)1644..1724
Gene:HTT
Gene Synonym:HD; IT15
Exon (12)1725..2065
Gene:HTT
Gene Synonym:HD; IT15
Exon (13)2066..2189
Gene:HTT
Gene Synonym:HD; IT15
Exon (14)2190..2308
Gene:HTT
Gene Synonym:HD; IT15
Exon (15)2309..2420
Gene:HTT
Gene Synonym:HD; IT15
Exon (16)2421..2558
Gene:HTT
Gene Synonym:HD; IT15
Exon (17)2559..2717
Gene:HTT
Gene Synonym:HD; IT15
Exon (18)2718..2815
Gene:HTT
Gene Synonym:HD; IT15
Exon (19)2816..2955
Gene:HTT
Gene Synonym:HD; IT15
Exon (20)2956..3019
Gene:HTT
Gene Synonym:HD; IT15
Exon (21)3020..3120
Gene:HTT
Gene Synonym:HD; IT15
Exon (22)3121..3267
Gene:HTT
Gene Synonym:HD; IT15
Exon (23)3268..3388
Gene:HTT
Gene Synonym:HD; IT15
Exon (24)3389..3465
Gene:HTT
Gene Synonym:HD; IT15
Exon (25)3466..3617
Gene:HTT
Gene Synonym:HD; IT15
Exon (26)3618..3820
Gene:HTT
Gene Synonym:HD; IT15
Exon (27)3821..3947
Gene:HTT
Gene Synonym:HD; IT15
Exon (28)3948..4075
Gene:HTT
Gene Synonym:HD; IT15
Exon (29)4076..4186
Gene:HTT
Gene Synonym:HD; IT15
Exon (30)4187..4264
Gene:HTT
Gene Synonym:HD; IT15
Exon (31)4265..4488
Gene:HTT
Gene Synonym:HD; IT15
Exon (32)4489..4567
Gene:HTT
Gene Synonym:HD; IT15
Exon (33)4568..4729
Gene:HTT
Gene Synonym:HD; IT15
Exon (34)4730..4785
Gene:HTT
Gene Synonym:HD; IT15
Exon (35)4786..4934
Gene:HTT
Gene Synonym:HD; IT15
Exon (36)4935..5071
Gene:HTT
Gene Synonym:HD; IT15
Exon (37)5072..5188
Gene:HTT
Gene Synonym:HD; IT15
Exon (38)5189..5311
Gene:HTT
Gene Synonym:HD; IT15
Exon (39)5312..5547
Gene:HTT
Gene Synonym:HD; IT15
Exon (40)5548..5690
Gene:HTT
Gene Synonym:HD; IT15
Exon (41)5691..5898
Gene:HTT
Gene Synonym:HD; IT15
Exon (42)5899..6040
Gene:HTT
Gene Synonym:HD; IT15
Exon (43)6041..6220
Gene:HTT
Gene Synonym:HD; IT15
Exon (44)6221..6397
Gene:HTT
Gene Synonym:HD; IT15
Exon (45)6398..6474
Gene:HTT
Gene Synonym:HD; IT15
Exon (46)6475..6613
Gene:HTT
Gene Synonym:HD; IT15
Exon (47)6614..6736
Gene:HTT
Gene Synonym:HD; IT15
Exon (48)6737..6950
Gene:HTT
Gene Synonym:HD; IT15
Exon (49)6951..7096
Gene:HTT
Gene Synonym:HD; IT15
Exon (50)7097..7274
Gene:HTT
Gene Synonym:HD; IT15
Exon (51)7275..7376
Gene:HTT
Gene Synonym:HD; IT15
Exon (52)7377..7564
Gene:HTT
Gene Synonym:HD; IT15
Exon (53)7565..7691
Gene:HTT
Gene Synonym:HD; IT15
Exon (54)7692..7792
Gene:HTT
Gene Synonym:HD; IT15
Exon (55)7793..7947
Gene:HTT
Gene Synonym:HD; IT15
Exon (56)7948..8087
Gene:HTT
Gene Synonym:HD; IT15
Exon (57)8088..8170
Gene:HTT
Gene Synonym:HD; IT15
Exon (58)8171..8301
Gene:HTT
Gene Synonym:HD; IT15
Exon (59)8302..8431
Gene:HTT
Gene Synonym:HD; IT15
Exon (60)8432..8587
Gene:HTT
Gene Synonym:HD; IT15
Exon (61)8588..8778
Gene:HTT
Gene Synonym:HD; IT15
Exon (62)8779..8893
Gene:HTT
Gene Synonym:HD; IT15
Exon (63)8894..9107
Gene:HTT
Gene Synonym:HD; IT15
Exon (64)9108..9213
Gene:HTT
Gene Synonym:HD; IT15
Exon (65)9214..9376
Gene:HTT
Gene Synonym:HD; IT15
Exon (66)9377..9537
Gene:HTT
Gene Synonym:HD; IT15
Exon (67)9538..13652
Gene:HTT
Gene Synonym:HD; IT15
Translation MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQA QPLLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNS PEFQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNG APRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMAS FGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGL LVPVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVY ELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSG SIVELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGEL AASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVS AVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQP QDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGD QENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSC VGAAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICS ILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLC SSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYT GLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQS SVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTT RALTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAW FPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMV EQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPL SPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQN STEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKT LFGTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNM VQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTT TTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIF FFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKA DAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPML AKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILA ILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEE TFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAA ATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTP KRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTW LIVNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLE GIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNR IQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKD WYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISG GQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSL PTLARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAG LDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKA ISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIIS LARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGW TSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPV AGNPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWD PVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDE EEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILIS EVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKA VAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIA HCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCA LRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRT SDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVI GEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSC FFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEV VAAPGSPYHRLLTCLRNVHKVTTC
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Position Chain Variation Link
21..22+, gcggggdbSNP:113331544
30+a, gdbSNP:13132932
70+g, tdbSNP:368519841
complement(103)-g, adbSNP:396875
169+a, gdbSNP:13102260
214+c, tdbSNP:146151652
233+a, gdbSNP:201071630
374..379+, cagcagdbSNP:374076986
427+a, gdbSNP:9993357
complement(430..432)-, tgcdbSNP:71180116
432+a, cdbSNP:61792465
complement(433)-t, cdbSNP:473915
435+a, cdbSNP:61792466
complement(441..442)-tggcggctgt, cggcggctgttgcdbSNP:66568705
442+a, gdbSNP:76533208
463+g, tdbSNP:9993367
complement(475)-c, adbSNP:603765
complement(531)-t, gdbSNP:375917
634+dbSNP:
634+g, tdbSNP:144207123
640+a, cdbSNP:140019482
651+c, tdbSNP:370488438
679+dbSNP:
679+a, gdbSNP:371965675
685+g, tdbSNP:375334095
707+a, gdbSNP:77742164
718+, tdbSNP:35934935
727+c, tdbSNP:368590997
742+c, gdbSNP:372355130
824+dbSNP:
824+c, tdbSNP:190411190
826+c, tdbSNP:200331534
877+dbSNP:
877+c, tdbSNP:370428701
907+c, tdbSNP:184820567
910+c, gdbSNP:368339242
966+dbSNP:
966+a, gdbSNP:200499945
968+a, gdbSNP:181975967
981+c, tdbSNP:374709608
982+c, tdbSNP:374267492
1014+c, tdbSNP:186355914
1035+c, tdbSNP:199585002
1040+g, tdbSNP:201015782
complement(1049)-t, gdbSNP:75790599
1059+a, gdbSNP:372086384
complement(1089)-dbSNP:
complement(1089)-g, adbSNP:1936033
1089+c, tdbSNP:386549642
1110+c, tdbSNP:372182277
complement(1207)-g, cdbSNP:1936032
1220+dbSNP:
1220+a, gdbSNP:113106141
1228+a, cdbSNP:199509618
1242+c, tdbSNP:375799747
1261+c, tdbSNP:370445860
1288+a, gdbSNP:374024704
1291+c, tdbSNP:181961779
1336+c, tdbSNP:376129083
1405+dbSNP:
1405+c, gdbSNP:114476023
1425+a, cdbSNP:374501542
1451+c, tdbSNP:371255782
1510+c, tdbSNP:1065745
1511+g, tdbSNP:372410485
1537+c, gdbSNP:374296062
1544+a, cdbSNP:201948833
1560+g, tdbSNP:189018320
1568+c, tdbSNP:367833914
1593+c, tdbSNP:201724304
1597+dbSNP:
1597+a, tdbSNP:370043648
1668+dbSNP:
1668+a, cdbSNP:376039050
1693+a, gdbSNP:372601536
1746+dbSNP:
1746+c, gdbSNP:376114909
1757+c, gdbSNP:148032171
1796+c, tdbSNP:201739761
1797+a, gdbSNP:199954376
1813+a, cdbSNP:199926789
1843+a, gdbSNP:201861325
1851+c, tdbSNP:375880864
1856+a, cdbSNP:200974872
complement(1858)-t, cdbSNP:2301367
1937+a, gdbSNP:141760655
1974+a, gdbSNP:118005095
2007+c, tdbSNP:267600138
2024+a, gdbSNP:371803336
2074+dbSNP:
2074+c, tdbSNP:368866386
2080+c, tdbSNP:372467345
2134+a, gdbSNP:374816196
2163+c, tdbSNP:369429768
2171+g, tdbSNP:372989695
2196+dbSNP:
2196+a, gdbSNP:151106561
2209+a, gdbSNP:374796460
2220+c, tdbSNP:367861014
2246+a, gdbSNP:201938386
2289+c, tdbSNP:374016128
2347+dbSNP:
2347+c, tdbSNP:368592461
2349+a, gdbSNP:372358763
2392+c, tdbSNP:200648152
2395+a, gdbSNP:374740113
2407+a, gdbSNP:368999999
2409+c, tdbSNP:34389685
2424+dbSNP:
2424+g, tdbSNP:200178417
2431+a, gdbSNP:374485750
2453+a, gdbSNP:376881312
2477+a, gdbSNP:370257023
2498+c, tdbSNP:200639978
2503+a, gdbSNP:201616388
2526+a, gdbSNP:376441426
2547+c, tdbSNP:41264721
2548+a, gdbSNP:370554692
2563+dbSNP:
2563+a, gdbSNP:374614171
2584+a, gdbSNP:367585953
2630+a, tdbSNP:371462947
2672+c, tdbSNP:375919976
2676+c, tdbSNP:150027738
2681+a, gdbSNP:201760820
2736+dbSNP:
2736+c, tdbSNP:140979048
2738+g, tdbSNP:374344267
2756+c, tdbSNP:377013397
2781+c, tdbSNP:370174870
2826+dbSNP:
2826+c, tdbSNP:199977680
2839+c, tdbSNP:201808770
2876+a, gdbSNP:370452437
2904+a, gdbSNP:191504584
2906+c, tdbSNP:374030445
2912+a, gdbSNP:376122624
2951+c, tdbSNP:370786198
2988+dbSNP:
2988+a, cdbSNP:192933099
2993+c, gdbSNP:373663711
complement(2999)-t, cdbSNP:363075
3055+dbSNP:
3055+c, tdbSNP:368226353
3080+a, gdbSNP:80100842
3084+c, tdbSNP:376581329
3103+c, tdbSNP:188101620
3104+a, gdbSNP:369875192
3112+a, gdbSNP:374101392
3130+dbSNP:
3130+a, gdbSNP:368961206
3170+g, tdbSNP:372725851
3178+c, tdbSNP:376025717
3179+a, gdbSNP:370523524
3193+a, gdbSNP:373096447
3211+a, gdbSNP:374861629
3229+a, gdbSNP:377400054
3232+c, gdbSNP:371088688
3303+dbSNP:
3303+c, gdbSNP:190593027
3306+a, cdbSNP:368495667
3307+c, tdbSNP:76822705
3342+a, cdbSNP:372185076
3369+c, tdbSNP:373299691
3394+dbSNP:
3394+a, gdbSNP:369197307
3449+g, tdbSNP:200289562
3458+c, tdbSNP:376638534
3473+dbSNP:
3473+c, tdbSNP:377475502
3488+c, gdbSNP:370372155
3489+a, cdbSNP:78958847
3511+c, tdbSNP:202105394
complement(3512)-t, cdbSNP:35892913
3527+a, gdbSNP:41264725
3547+a, gdbSNP:144035877
3547+c, tdbSNP:386426566
3555+c, gdbSNP:372507485
3566+a, c, gdbSNP:1065746
3595+g, tdbSNP:1143646
3631+dbSNP:
3631+a, gdbSNP:374733848
3666+c, gdbSNP:1065747
3668+a, cdbSNP:371584472
3676+a, cdbSNP:376205282
3725+c, gdbSNP:369374727
3730+c, tdbSNP:200581635
3748+c, tdbSNP:374106761
3784+c, tdbSNP:377680756
3785+a, gdbSNP:373038776
3792+a, gdbSNP:369912429
3815+a, gdbSNP:377592444
3822+dbSNP:
3822+g, tdbSNP:2530588
3822+g, tdbSNP:386569029
complement(3839)-t, cdbSNP:3025843
3856+a, gdbSNP:145260975
3878+a, gdbSNP:377136871
3904+a, gdbSNP:370598749
3913+a, gdbSNP:181975938
3939+c, gdbSNP:374256421
4022+dbSNP:
4022+c, tdbSNP:369426776
4031+a, cdbSNP:188342053
4064+a, gdbSNP:376975573
4082+dbSNP:
4082+c, gdbSNP:369972338
4095+a, gdbSNP:373022404
4101+a, gdbSNP:34315806
4117+a, gdbSNP:370729504
complement(4123)-g, adbSNP:363099
4125+a, gdbSNP:199529839
4213+dbSNP:
4213+g, tdbSNP:143701263
4232..4233+, gdbSNP:35325925
4240+a, gdbSNP:374335589
4343+dbSNP:
4343+c, gdbSNP:370058955
4350+a, gdbSNP:373541628
4352+c, tdbSNP:200657357
4393+c, tdbSNP:368966300
4454+a, gdbSNP:372734580
4475+g, tdbSNP:3025837
4485+c, tdbSNP:60135671
4502+dbSNP:
4502+c, tdbSNP:374630949
4506+a, gdbSNP:367600613
4519+a, cdbSNP:199658140
4547+a, tdbSNP:370382867
4557+a, gdbSNP:201053245
4572+dbSNP:
4572+c, gdbSNP:372640158
4577+a, cdbSNP:375899948
4589+c, tdbSNP:151199221
4642+a, gdbSNP:199875867
4644+c, gdbSNP:372479051
4657+a, gdbSNP:370860020
4670+a, gdbSNP:199843834
4735+dbSNP:
4735+c, tdbSNP:377269192
4777+c, tdbSNP:369637161
4781+c, tdbSNP:201715538
4887+dbSNP:
4887+a, gdbSNP:374828999
4908+c, tdbSNP:377474866
4928+a, gdbSNP:370489589
4960+dbSNP:
4960+c, gdbSNP:116293982
4972+c, tdbSNP:372366590
4974+c, tdbSNP:374644521
4986+a, gdbSNP:386584525
complement(4986)-g, adbSNP:363129
5101+dbSNP:
5101+a, gdbSNP:377681939
5282+dbSNP:
5282+c, tdbSNP:201149918
5293+c, tdbSNP:199866794
5313+dbSNP:
5313+c, tdbSNP:368118407
5317+c, tdbSNP:367607468
5325+a, cdbSNP:201729743
5333+c, tdbSNP:375932093
complement(5364)-t, cdbSNP:34781439
5385+a, cdbSNP:369275219
5394+c, tdbSNP:372272991
5444+c, tdbSNP:150003356
5481+g, tdbSNP:363125
5487+c, tdbSNP:374347047
5533+a, gdbSNP:377275039
5554+dbSNP:
5554+a, gdbSNP:201380622
5556+a, tdbSNP:61731805
5563+g, tdbSNP:374357492
5573+c, gdbSNP:368601624
5579+a, gdbSNP:140357956
5660+c, tdbSNP:182113414
5662+a, gdbSNP:371791011
5677+c, tdbSNP:200557996
5693+dbSNP:
5693+a, gdbSNP:371907257
5710+a, gdbSNP:376884113
5714+c, gdbSNP:201422844
5725+c, gdbSNP:368226123
5746..5747+, ggggdbSNP:149906530
5764+c, gdbSNP:201878423
5783+c, tdbSNP:201058625
5807..5808+, cdbSNP:34673947
complement(5822..5823)-g, adbSNP:3025827
5895+c, tdbSNP:377136202
5935+dbSNP:
5935+c, tdbSNP:373095544
5938+c, gdbSNP:377417767
5976+a, gdbSNP:200824667
5986+a, gdbSNP:199576985
5989+c, tdbSNP:370970140
6020+a, gdbSNP:368615371
6082+dbSNP:
6082+a, tdbSNP:370378706
6118+c, tdbSNP:374956035
6140+a, cdbSNP:367944462
6149+a, gdbSNP:201639415
6155+c, tdbSNP:202046922
6172+c, tdbSNP:201305332
6187+a, gdbSNP:368505061
6191+a, gdbSNP:372193344
6259+dbSNP:
6259+a, gdbSNP:201094471
6262+c, gdbSNP:200125263
6274+a, gdbSNP:199609576
6277+a, gdbSNP:369232462
6319+c, tdbSNP:200077637
6327+a, gdbSNP:201159417
6461+dbSNP:
6461+a, gdbSNP:181217572
6470+c, gdbSNP:371382571
6484+dbSNP:
6484+c, gdbSNP:372362247
6485+c, tdbSNP:199941479
6542+c, tdbSNP:201646519
6564+c, tdbSNP:201104173
6583+c, tdbSNP:200512822
6643+dbSNP:
6643+a, gdbSNP:181520026
6659+g, tdbSNP:1143648
6702+c, tdbSNP:369908356
6739+dbSNP:
6739+a, gdbSNP:55934900
6796+c, tdbSNP:140124504
6821+g, tdbSNP:377147282
6884+c, tdbSNP:112260178
6899+a, gdbSNP:200008242
6908+a, gdbSNP:202240444
complement(6913)-t, cdbSNP:362336
6946+a, gdbSNP:144090436
6962+dbSNP:
6962+c, gdbSNP:367623835
6964+g, tdbSNP:372618829
6990+a, gdbSNP:375059996
6991+a, gdbSNP:367979379
7010+a, gdbSNP:371843250
7018+c, tdbSNP:376984622
7078+c, tdbSNP:369632008
7079+c, gdbSNP:374360323
7081+c, gdbSNP:377203393
7119+dbSNP:
7119+a, gdbSNP:202236016
7132+a, gdbSNP:370817761
7247+c, tdbSNP:362331
7248+a, gdbSNP:200129223
7273+c, tdbSNP:376635317
7284+dbSNP:
7284+a, tdbSNP:200857448
7298+c, tdbSNP:368077431
7332+a, gdbSNP:186882443
7343..7345+, gagdbSNP:373205907
7351+a, gdbSNP:191063722
complement(7384)-dbSNP:
complement(7384)-t, cdbSNP:3025818
7389+c, tdbSNP:375725257
7438+a, gdbSNP:377176195
7470+a, gdbSNP:369049561
7471+c, tdbSNP:372758637
7477+a, gdbSNP:375913560
7488+c, tdbSNP:200455891
complement(7498)-t, gdbSNP:2857790
7505+a, tdbSNP:202160733
7531+c, tdbSNP:376323222
7594+dbSNP:
7594+a, gdbSNP:372202628
7623+a, cdbSNP:375455350
7630+c, tdbSNP:368380145
7654+a, tdbSNP:201702168
7683+a, gdbSNP:76653888
7684+a, gdbSNP:362321
7684+c, tdbSNP:386584498
complement(7754)-dbSNP:
complement(7754)-g, adbSNP:3025816
7754+c, tdbSNP:386578744
7766+a, tdbSNP:369228257
7767+c, tdbSNP:372850510
7819+dbSNP:
7819+c, tdbSNP:190850312
7820+a, gdbSNP:371399733
7828+c, tdbSNP:182132217
complement(7850)-g, cdbSNP:3025814
7865+a, tdbSNP:374835537
7880+a, gdbSNP:200676186
7892+a, gdbSNP:377400749
7939+c, tdbSNP:371891121
7965+dbSNP:
7965+a, gdbSNP:372373805
7989+a, gdbSNP:374647004
7993+a, gdbSNP:138489139
8002+a, gdbSNP:76647298
8104+dbSNP:
8104+c, tdbSNP:369560571
complement(8119)-t, cdbSNP:362273
8125+c, gdbSNP:377408760
8136+a, gdbSNP:369751042
8164+c, tdbSNP:200527929
8172+dbSNP:
8172+g, tdbSNP:200196119
8200+c, g, tdbSNP:181007475
8210+a, cdbSNP:201944095
8240..8242+, gagdbSNP:149109767
8242+a, gdbSNP:112304717
8254+c, tdbSNP:368741323
8255+a, gdbSNP:371268694
8257+a, cdbSNP:375957195
8260+c, gdbSNP:201422922
8272+a, gdbSNP:372104948
8283+c, tdbSNP:375426084
8284+a, gdbSNP:369624996
8298+c, tdbSNP:199968967
8310+dbSNP:
8310+a, gdbSNP:377091390
8337+c, tdbSNP:202216456
complement(8338)-t, cdbSNP:34600449
8376+c, tdbSNP:201229449
8440+dbSNP:
8440+c, gdbSNP:142891110
8470+a, gdbSNP:368082453
complement(8479)-t, cdbSNP:2276881
8479+c, tdbSNP:386563326
8497+a, cdbSNP:201467885
8520+c, tdbSNP:368605366
8524+a, gdbSNP:200586785
8546+c, tdbSNP:371640265
8575+c, tdbSNP:2229985
8576+a, gdbSNP:367721569
8616+dbSNP:
8616+a, gdbSNP:377150821
8632+a, gdbSNP:369914566
8677+c, tdbSNP:200390355
complement(8678)-t, cdbSNP:362272
8678+c, tdbSNP:386584496
8690+c, tdbSNP:369204399
8734+a, c, gdbSNP:71608259
8743+c, tdbSNP:375922907
8842+dbSNP:
8842+a, tdbSNP:201724113
8867+c, tdbSNP:200296674
8868+c, tdbSNP:144891713
8911+dbSNP:
8911+c, gdbSNP:369997039
8978+c, tdbSNP:199535935
8985+c, gdbSNP:374836871
9008+g, tdbSNP:369089042
9015+c, tdbSNP:201699939
9016+a, gdbSNP:372861328
9047+a, gdbSNP:376136833
9058+a, gdbSNP:369845532
9073+a, gdbSNP:373215539
9114+dbSNP:
9114+a, gdbSNP:368288911
complement(9155)-c, adbSNP:3025807
9160+c, tdbSNP:372373063
9163+c, tdbSNP:374391779
9183+c, tdbSNP:368828515
9227+dbSNP:
9227+c, tdbSNP:200392606
complement(9229..9230)-t, adbSNP:3025806
9277+c, tdbSNP:374515950
9288+c, tdbSNP:377344161
9352+a, gdbSNP:141927489
9364+a, cdbSNP:373377741
9368+a, gdbSNP:377159286
9400+dbSNP:
9400+c, tdbSNP:374574494
9401+a, gdbSNP:368718954
9409+a, gdbSNP:201784554
9466+a, gdbSNP:371266914
9480+c, tdbSNP:375081737
9499+c, tdbSNP:2229987
9517+c, gdbSNP:371718523
9530+a, gdbSNP:201076881
9535+a, gdbSNP:369633799
9541+dbSNP:
9541+c, tdbSNP:376179430
9604+c, tdbSNP:370604707
9613+c, tdbSNP:372911161
9625+a, cdbSNP:377287477
9647+c, tdbSNP:370674094
9648+g, tdbSNP:374376603
9685+c, tdbSNP:200112468
complement(9700)-g, adbSNP:362308
9718+c, tdbSNP:371160721
9723+a, gdbSNP:374128370
9754+a, gdbSNP:367756566
9784+a, cdbSNP:370044029
9792+a, gdbSNP:371997188
9810+a, gdbSNP:362307
9860+g, tdbSNP:148278311
9863+a, cdbSNP:73193321
9887+a, tdbSNP:59292988
9890+a, gdbSNP:142715334
9899+c, tdbSNP:116198062
9939+a, gdbSNP:73792378
9987+a, cdbSNP:73792379
10010+a, tdbSNP:189003905
10016+a, gdbSNP:112765468
complement(10065)-t, cdbSNP:362306
10065+a, gdbSNP:386584497
10079+a, gdbSNP:368848364
complement(10113)-g, cdbSNP:362268
complement(10125)-g, cdbSNP:362305
10188+a, gdbSNP:144996044
10205+c, tdbSNP:371097921
10209+c, gdbSNP:113512033
complement(10237)-t, gdbSNP:362304
complement(10272)-g, adbSNP:362303
10322+a, gdbSNP:181402508
complement(10347)-t, cdbSNP:138835084
10383+c, tdbSNP:142037345
10441+a, gdbSNP:150858902
10468+g, tdbSNP:115429408
10483+c, tdbSNP:114344383
10503+a, gdbSNP:112877527
10523+a, cdbSNP:139353505
10533+c, tdbSNP:371573674
10548+c, tdbSNP:372664017
10623+c, tdbSNP:73792381
10758+a, cdbSNP:149616739
complement(10881)-g, adbSNP:1557210
complement(10885)-g, adbSNP:362302
10886+a, gdbSNP:113285146
10903+g, tdbSNP:144364475
complement(10973)-c, adbSNP:3025805
complement(11183)-g, adbSNP:362267
11231+a, gdbSNP:57969431
11255+a, gdbSNP:116419279
11262+c, gdbSNP:111820718
11359+a, gdbSNP:191419457
11367+a, cdbSNP:182741654
complement(11402)-c, adbSNP:362301
11446..11447+, aaagggagcccctgctcdbSNP:6148278
11446+c, gdbSNP:78277727
11459..11460+, gctcaaagggagcccctdbSNP:58276479
11640..11641+, ttcdbSNP:3072133
11640+a, cdbSNP:201739406
11641..11642+, ttcdbSNP:33979070
11643..11644+, ttcdbSNP:397805399
11738+, gdbSNP:5855774
11769+a, gdbSNP:115335747
complement(11846)-t, cdbSNP:2159172
12026+c, tdbSNP:73792382
12027+a, gdbSNP:185984868
complement(12089)-t, cdbSNP:141042597
12129..12130+, acacdbSNP:369266342
12215+a, gdbSNP:190661859
12293+a, cdbSNP:112989843
12328..12331+, gaggdbSNP:370559848
12537+c, tdbSNP:77140169
12561+a, gdbSNP:144163319
12640+a, gdbSNP:2237008
12641+c, tdbSNP:139507275
12682+c, tdbSNP:374130012
12861+g, tdbSNP:114691062
12868+c, tdbSNP:187717515
complement(12893)-t, cdbSNP:362300
12897+c, tdbSNP:367961756
complement(13022)-g, adbSNP:2530595
13088+a, gdbSNP:192163538
13170+c, gdbSNP:375197727
13197+c, gdbSNP:369506183
13218+a, gdbSNP:375014405
13229+a, gdbSNP:183027246
13284+a, tdbSNP:28475694
complement(13301)-t, cdbSNP:142559407
13338+c, tdbSNP:150960575
13347+c, gdbSNP:372797396
13386+a, gdbSNP:187319754
13457+c, tdbSNP:61745472
13464+a, gdbSNP:1803770
13494..13495+, cdbSNP:35915896
13513+a, gdbSNP:184486879
13519+c, tdbSNP:140805376
13545+a, gdbSNP:1803771
13576+c, tdbSNP:189515556
Gene SymbolHTT
Gene SynonymHD; IT15
Chromosome4
Locus Map4p16.3
Title Dynamic recruitment of active proteasomes into polyglutamine initiated inclusion bodies .
Author Schipper-Krom S, Juenemann K, Jansen AH, Wiemhoefer A, van den Nieuwendijk R, Smith DL, Hink MA, Bates GP, Overkleeft H, Ovaa H and Reits E.
Journal FEBS Lett. 588 (1), 151-159 (2014)
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title Role of context in RNA structure: flanking sequences reconfigure .
Author Busan S and Weeks KM.
Journal Biochemistry 52 (46), 8219-8225 (2013)
Title Clinical and genetic features of Huntington disease in Sri Lanka .
Author Sumathipala DS, Jayasekara RW and Dissanayake VH.
Journal BMC Neurol 13, 191 (2013)
Title An upstream open reading frame impedes translation of the huntingtin gene .
Author Lee J, Park EH, Couture G, Harvey I, Garneau P and Pelletier J.
Journal Nucleic Acids Res. 30 (23), 5110-5119 (2002)
Title A huntingtin-associated protein enriched in brain with implications for pathology .
Author Li XJ, Li SH, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH and Ross CA.
Journal Nature 378 (6555), 398-402 (1995)
Title Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies .
Author Gutekunst CA, Levey AI, Heilman CJ, Whaley WL, Yi H, Nash NR, Rees HD, Madden JJ and Hersch SM.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (19), 8710-8714 (1995)
Title Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form .
Author Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC and Mandel JL.
Journal Nat. Genet. 10 (1), 104-110 (1995)
Title Huntington Disease .
Author Warby,S.C., Graham,R.K. and Hayden,M.R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title The Huntington's disease candidate region exhibits many different haplotypes .
Author MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M and Myers R.
Journal Nat. Genet. 1 (2), 99-103 (1992)

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