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Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22965 Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu22965C Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA. Customized vector In-stock $149.00 5-7

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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_207118.2, 224922844
Length 216 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA.
Product general transcription factor IIH subunit 5

Summary: This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009].

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.

##Evidence-Data-START## Transcript exon combination :: CN403888.1, AK055106.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_997001.1
CDS 84..299
Misc Feature(1)75..77
Misc Feature(2)87..293
Misc Feature(3)87..293
Misc Feature(4)288..290
Misc Feature(5)288..290
Exon (1)1..49
Gene Synonym:bA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Exon (2)50..118
Gene Synonym:bA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Exon (3)119..7486
Gene Synonym:bA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
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Position Chain Variation Link
19+c, tdbSNP:186852334
complement(47)-g, cdbSNP:3812102
60+a, gdbSNP:376278312
116+a, gdbSNP:142825820
143+g, tdbSNP:367800002
145+c, tdbSNP:121434365
163+a, gdbSNP:372171527
187+c, g, tdbSNP:201926134
190+a, gdbSNP:369754503
200+c, tdbSNP:200949665
210+a, gdbSNP:114381286
218+a, gdbSNP:115779583
219+a, gdbSNP:146093050
222+a, gdbSNP:139277280
224+a, gdbSNP:199635378
249+c, tdbSNP:121434364
250+a, gdbSNP:181096841
254+a, gdbSNP:376497189
complement(268)-t, adbSNP:11545281
277+c, tdbSNP:369104295
284+c, tdbSNP:144106337
289+c, tdbSNP:144130001
313+a, gdbSNP:201779954
392+a, tdbSNP:4397255
complement(410)-g, adbSNP:139632531
448+a, cdbSNP:79076913
complement(485)-, tdbSNP:3841147
574+, tdbSNP:34355305
594+a, gdbSNP:375182581
639+c, gdbSNP:147405902
640+c, tdbSNP:139663532
669+a, gdbSNP:111902038
673+a, gdbSNP:369647801
713+a, cdbSNP:4425618
742+c, gdbSNP:185453197
775+c, tdbSNP:145493528
826+g, tdbSNP:190258294
893+a, gdbSNP:114283221
965+a, gdbSNP:144279837
1020+a, gdbSNP:9457163
1056..1057+, adbSNP:10625768
complement(1090)-t, cdbSNP:148725344
complement(1109)-t, cdbSNP:142282567
1229+a, gdbSNP:368905006
1283..1284+, tgdbSNP:138803199
1284..1285+, gtdbSNP:376326356
1284+c, gdbSNP:375992639
1288+a, cdbSNP:369395617
1302..1303+, adbSNP:34979024
1334..1335+, atggcttaagcccaggaggdbSNP:151336745
1346..1347+, aggaggatggcttaagcccdbSNP:6149883
1347..1348+, aggaggatggcttaagcccdbSNP:33953121
1352..1353+, atggcttaagcccaggaggdbSNP:60347118
1353..1354+, tggcttaagcccaggaggtdbSNP:67939942
1365+c, tdbSNP:182825613
1453+a, gdbSNP:373135935
1498+a, gdbSNP:151238307
1500+a, gdbSNP:187464465
1512+a, gdbSNP:12207483
1587+a, tdbSNP:140609814
1635+a, gdbSNP:117218365
1638+a, gdbSNP:35508045
1822+a, gdbSNP:112463023
1905+a, gdbSNP:192160342
complement(1918)-c, adbSNP:75477044
1932+c, tdbSNP:183957959
2000+a, gdbSNP:376354541
2064+a, gdbSNP:373503060
2103+c, gdbSNP:146620040
2130..2131+, adbSNP:369441357
2151..2152+, a, aadbSNP:34665520
2244+a, cdbSNP:57987549
2329+a, gdbSNP:187726673
2392+a, gdbSNP:141343872
2407+a, cdbSNP:145383091
2431+c, tdbSNP:116538080
2533+a, gdbSNP:369231297
2839+c, gdbSNP:192341195
complement(3036)-t, adbSNP:1019682
3066..3069+, tcttdbSNP:142592947
3073..3076+, ttctdbSNP:371223146
3097+c, tdbSNP:111591298
3127+g, tdbSNP:377645053
3174+a, gdbSNP:149050245
3187+a, gdbSNP:184676212
3211+a, gdbSNP:12529100
3212+c, tdbSNP:79287750
3284..3285+, tdbSNP:72413565
3301+a, tdbSNP:62437117
3388..3389+, adbSNP:141473091
3441+c, tdbSNP:143033146
3445+a, cdbSNP:10946159
3492+, gdbSNP:200816056
3569+g, tdbSNP:76223157
3596+c, tdbSNP:113760007
3733+a, cdbSNP:148181533
3802+c, tdbSNP:111336600
3837+c, tdbSNP:1047876
3857+c, tdbSNP:116081980
3923+a, gdbSNP:142944969
3947+a, tdbSNP:187127951
3986+a, cdbSNP:4354181
4072+g, tdbSNP:377522100
4104+c, tdbSNP:200589356
4148+a, gdbSNP:138146620
4166+a, gdbSNP:143608085
4226+a, cdbSNP:376166000
4239+a, tdbSNP:370113793
4260+a, gdbSNP:191893437
4285+a, gdbSNP:150554234
4319+a, gdbSNP:56693427
4378+c, tdbSNP:184452268
4398+a, gdbSNP:189158643
4411+a, gdbSNP:193213215
4419+a, cdbSNP:78784407
4423+c, tdbSNP:371986604
4524+a, gdbSNP:115613510
4569+a, gdbSNP:374347312
4656+a, gdbSNP:113671169
4682+c, tdbSNP:628039
4770..4771+, cdbSNP:34957535
4804+a, tdbSNP:144679213
4959+c, tdbSNP:115244897
5091+, tdbSNP:201786337
5220+a, c, gdbSNP:369578702
5439+a, gdbSNP:185564909
5492+c, tdbSNP:190819724
5555..5559+, aaaagdbSNP:368564099
5698+c, tdbSNP:6456077
5713+a, tdbSNP:4441970
5774+g, tdbSNP:114098318
5785+c, tdbSNP:2885903
5823+a, gdbSNP:115391510
5828+c, tdbSNP:200980516
complement(5847)-g, adbSNP:144549481
5869+c, gdbSNP:180820248
5874+a, tdbSNP:372689688
5971+c, tdbSNP:185199534
5982+c, tdbSNP:200536542
6149+g, tdbSNP:1570219
6174+a, gdbSNP:28489930
6263+a, gdbSNP:188452362
6326+a, gdbSNP:181260003
6366+c, tdbSNP:368916702
complement(6387)-c, adbSNP:146631029
6398+c, tdbSNP:141364510
6492+a, gdbSNP:185719792
complement(6519)-t, cdbSNP:599345
6538+, tdbSNP:139277614
6589+a, tdbSNP:111366141
6666+c, tdbSNP:374145859
6679+a, gdbSNP:191631462
6744+c, tdbSNP:183881822
6777+a, gdbSNP:368305989
6781+c, tdbSNP:6936654
complement(6823)-g, cdbSNP:615107
complement(6840)-g, adbSNP:140779556
6986+c, tdbSNP:150113670
7054+c, tdbSNP:138412951
7058+c, gdbSNP:71563797
7058+c, gdbSNP:386500833
7175+a, tdbSNP:115534740
7175+a, tdbSNP:386442781
7355+a, gdbSNP:62437118
7395+a, gdbSNP:1128568
7395+c, tdbSNP:386484136
7411+a, cdbSNP:141109905
7445+c, gdbSNP:1128569
7446+a, cdbSNP:147018205
7486+a, gdbSNP:371280171
Gene SymbolGTF2H5
Gene SynonymbA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Locus Map6q25.3
Title Variation within DNA repair pathway genes and risk of multiple sclerosis .
Author Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL and Barcellos LF.
Journal Am. J. Epidemiol. 172 (2), 217-224 (2010)
Title Comprehensive analysis of DNA repair gene variants and risk of meningioma .
Author Bethke L, Murray A, Webb E, Schoemaker M, Muir K, McKinney P, Hepworth S, Dimitropoulou P, Lophatananon A, Feychting M, Lonn S, Ahlbom A, Malmer B, Henriksson R, Auvinen A, Kiuru A, Salminen T, Johansen C, Christensen HC, Kosteljanetz M, Swerdlow A and Houlston R.
Journal J. Natl. Cancer Inst. 100 (4), 270-276 (2008)
Title Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy .
Author Vitorino M, Coin F, Zlobinskaya O, Atkinson RA, Moras D, Egly JM, Poterszman A and Kieffer B.
Journal J. Mol. Biol. 368 (2), 473-480 (2007)
Title Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells .
Author Giglia-Mari G, Miquel C, Theil AF, Mari PO, Hoogstraten D, Ng JM, Dinant C, Hoeijmakers JH and Vermeulen W.
Journal PLoS Biol. 4 (6), E156 (2006)
Title p8/TTD-A as a repair-specific TFIIH subunit .
Author Coin F, Proietti De Santis L, Nardo T, Zlobinskaya O, Stefanini M and Egly JM.
Journal Mol. Cell 21 (2), 215-226 (2006)
Title A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A .
Author Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH and Vermeulen W.
Journal Nat. Genet. 36 (7), 714-719 (2004)
Title The DNA sequence and analysis of human chromosome 6 .
Author Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and Beck S.
Journal Nature 425 (6960), 805-811 (2003)
Title Molecular evolution of the second ancient human mariner transposon, Hsmar2, illustrates patterns of neutral evolution in the human genome lineage .
Author Robertson HM and Martos R.
Journal Gene 205 (1-2), 219-228 (1997)

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