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H-Invitational ID: HIT000338997 Accession number: BC108255 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
16 .. 16 G/C rs200443634 - CDS Nonsynonymous[Lys2Asn]
52 .. 52 C/T rs141622611 - CDS Synonymous[Tyr14Tyr]
57 .. 57 A/G rs147972150 - CDS Nonsynonymous[Tyr16Cys]
64 .. 64 C/T rs143614672 - CDS Synonymous[Tyr18Tyr]
82 .. 82 C/T rs41549115 + CDS Synonymous[Tyr24Tyr]
148 .. 148 C/T rs141391238 - CDS Synonymous[Thr46Thr]
157 .. 157 A/T rs147826890 - CDS Synonymous[Thr49Thr]
166 .. 166 G/A rs202156896 - CDS Synonymous[Leu52Leu]
213 ^ 214 -/C rs66931858 - CDS
226 .. 226 C/T rs200559616 - CDS Synonymous[Tyr72Tyr]
304 .. 304 G/C rs145947678 - CDS Nonsynonymous[Glu98Asp]
307 .. 307 C/T rs200953364 - CDS Synonymous[Gly99Gly]
312 .. 312 A/C rs201123342 - CDS Nonsynonymous[Lys101Thr]
318 .. 318 C/T rs142462393 - CDS Nonsynonymous[Pro103Leu]
345 .. 345 G/A rs121913020 + CDS Nonsynonymous[Arg112His]
397 .. 397 C/T rs199993007 - CDS Synonymous[Asp129Asp]
427 .. 427 C/G rs145239390 - CDS Synonymous[Ala139Ala]
438 .. 438 G/A rs150000483 - CDS Nonsynonymous[Arg143Gln]
452 .. 452 C/T rs201382232 - CDS Nonsynonymous[His148Tyr]
472 .. 472 C/G rs139263710 - CDS Nonsynonymous[His154Gln]
476 .. 476 C/T rs151235136 - CDS AA-STOP[Arg156*]
477 .. 477 G/A rs201294521 - CDS Nonsynonymous[Arg156Gln]
478 .. 478 A/C rs238406 - CDS Synonymous[Arg156Arg]
493 .. 493 T/- rs66560340 - CDS
524 .. 524 G/A rs140175332 - CDS Nonsynonymous[Ala172Thr]
537 .. 537 A/G rs146137795 - CDS Nonsynonymous[Asn176Ser]
555 .. 555 C/T rs142936491 - CDS Nonsynonymous[Ala182Val]
563 .. 563 C/T rs139884931 - CDS Nonsynonymous[Arg185Trp]
566 .. 566 C/T rs143960980 - CDS Nonsynonymous[Arg186Cys]
604 .. 604 A/G rs113925930 - CDS Synonymous[Ser198Ser]
607 .. 607 C/G rs1799791 + CDS Nonsynonymous[Ile199Met]
611 .. 611 C/T rs1799792 + CDS Nonsynonymous[His201Tyr]
643 .. 643 C/T rs112910027 - CDS Synonymous[Tyr211Tyr]
689 .. 689 C/T rs137910235 - CDS Nonsynonymous[Arg227Cys]
690 .. 690 G/A rs150708456 - CDS Nonsynonymous[Arg227His]
697 .. 697 C/T rs34021577 - CDS Synonymous[Ala229Ala]
701 .. 701 G/A rs200895828 - CDS Nonsynonymous[Val231Met]
709 .. 709 C/T rs141816180 - CDS Synonymous[Phe233Phe]
912 .. 912 C/A rs199863965 - CDS Nonsynonymous[Thr301Lys]
944 .. 944 G/A rs1799793 + CDS Nonsynonymous[Asp312Asn]
998 .. 998 C/T rs146022050 - CDS Synonymous[Leu330Leu]
1142 .. 1142 C/T rs186220206 - CDS Nonsynonymous[Arg378Cys]
1143 .. 1143 G/A rs200043231 - CDS Nonsynonymous[Arg378His]
1240 .. 1240 C/T rs142184249 - CDS Synonymous[Tyr410Tyr]
1276 .. 1276 C/T rs142702501 - CDS Synonymous[Asp422Asp]
1277 .. 1277 G/A rs143710107 - CDS Nonsynonymous[Asp423Asn]
1288 .. 1288 G/A rs148469762 - CDS Synonymous[Pro426Pro]
1303 .. 1303 C/T rs145729219 - CDS Synonymous[Pro431Pro]
1327 .. 1327 C/T rs200588470 - CDS Synonymous[Asp439Asp]
1333 .. 1333 G/A rs147850061 - CDS Synonymous[Ser441Ser]
1349 .. 1349 G/A rs141457460 - CDS Nonsynonymous[Val447Ile]
1353 .. 1353 T/C rs41559922 + CDS Nonsynonymous[Phe448Ser]
1359 .. 1359 G/A rs146632315 - CDS Nonsynonymous[Arg450His]
1364 .. 1364 C/T rs199643821 - CDS AA-STOP[Gln452*]
1391 .. 1391 C/G rs121913016 + CDS Nonsynonymous[Leu461Val]
1462 .. 1462 G/A rs139370246 - CDS Synonymous[Thr484Thr]
1464 .. 1464 T/C rs121913025 + CDS Nonsynonymous[Leu485Pro]
1470 .. 1470 G/A rs150865508 - CDS Nonsynonymous[Arg487Gln]
1499 .. 1499 C/T rs199738290 - CDS Nonsynonymous[Arg497Cys]
1570 .. 1570 T/C rs200450814 - CDS Synonymous[Tyr520Tyr]
1594 .. 1594 C/A rs199551160 - CDS Synonymous[Ser528Ser]
1616 .. 1616 G/A rs142568756 - CDS Nonsynonymous[Val536Met]
1631 .. 1631 A/C rs121913019 + CDS Nonsynonymous[Ser541Arg]
1642 .. 1642 C/T rs147605089 - CDS Synonymous[Tyr544Tyr]
1651 .. 1651 C/T rs144456449 - CDS Synonymous[Ser547Ser]
1655 .. 1655 G/A rs199778239 - CDS Nonsynonymous[Val549Met]
1714 .. 1714 T/C rs141944141 - CDS Synonymous[Phe568Phe]
1715 .. 1715 A/T rs74792417 - CDS Nonsynonymous[Ile569Phe]
1735 .. 1735 C/T rs116544270 - CDS Synonymous[Ala575Ala]
1736 .. 1736 G/A rs201165309 - CDS Nonsynonymous[Glu576Lys]
1747 .. 1747 C/T rs3916876 + CDS Synonymous[Val579Val]
1784 .. 1784 C/T rs190678702 - CDS Nonsynonymous[Arg592Cys]
1785 .. 1785 G/A rs147224585 - CDS Nonsynonymous[Arg592His]
1786 .. 1786 C/T rs143680124 - CDS Synonymous[Arg592Arg]
1799 .. 1799 C/T rs138038607 - CDS Synonymous[Leu597Leu]
1804 .. 1804 A/C rs150346978 - CDS Synonymous[Ser598Ser]
1812 .. 1812 G/A rs140522180 - CDS Nonsynonymous[Arg601Gln]
1852 .. 1852 C/T rs148319713 - CDS Synonymous[Tyr614Tyr]
1856 .. 1856 C/T rs121913024 + CDS Nonsynonymous[Arg616Trp]
1875 .. 1875 G/T rs200147400 - CDS Nonsynonymous[Gly622Val]
1876 .. 1876 C/T rs16979773 + CDS Synonymous[Gly622Gly]
1885 .. 1885 C/T rs146538967 - CDS Synonymous[Tyr625Tyr]
1886 .. 1886 G/A rs139002770 - CDS Nonsynonymous[Val626Ile]
1897 .. 1897 G/C rs200665173 - CDS Nonsynonymous[Gln629His]
1901 .. 1901 C/T/G rs144511865 - CDS
1914 .. 1914 C/T rs34517175 - CDS Nonsynonymous[Ala635Val]
1915 .. 1915 G/A rs145835916 - CDS Synonymous[Ala635Ala]
1950 .. 1950 G/T rs149818919 - CDS Nonsynonymous[Arg647Leu]
1982 .. 1982 C/T rs121913021 + CDS Nonsynonymous[Arg658Cys]
2002 .. 2002 G/C rs139110854 - CDS Synonymous[Val664Val]
2025 .. 2025 C/T rs200438494 - CDS Nonsynonymous[Thr672Met]
2038 .. 2038 C/T rs113157435 - CDS Synonymous[Leu676Leu]
2051 .. 2051 G/A rs121913023 + CDS Nonsynonymous[Asp681Asn]
2057 .. 2057 C/T rs41556519 + CDS Nonsynonymous[Arg683Trp]
2066 .. 2066 C/T rs144277365 - CDS Nonsynonymous[Arg686Cys]
2092 ^ 2093 -/C rs67735199 - CDS
2093 .. 2093 C/T rs201392911 - CDS Nonsynonymous[Arg695Cys]
2124 .. 2124 A/G rs140296400 - CDS Nonsynonymous[Asn705Ser]
2137 .. 2137 C/T rs147128863 - CDS Synonymous[Thr709Thr]
2138 .. 2138 G/A rs141808167 - CDS Nonsynonymous[Val710Met]
2143 .. 2143 C/T rs1052555 + CDS Synonymous[Asp711Asp]
2147 .. 2147 G/C rs121913022 + CDS Nonsynonymous[Gly713Arg]
2160 .. 2160 C/G rs144564120 - CDS Nonsynonymous[Ala717Gly]
2174 .. 2174 C/T rs121913026 + CDS Nonsynonymous[Arg722Trp]
2175 .. 2175 G/A rs138569838 - CDS Nonsynonymous[Arg722Gln]
2183 .. 2183 G/C rs121913018 + CDS Nonsynonymous[Ala725Pro]
2186 .. 2186 C/T rs121913017 + CDS AA-STOP[Gln726*]
2205 .. 2205 A/G rs201828535 - CDS Nonsynonymous[Asp732Gly]
2218 .. 2218 G/A rs145067933 - CDS Synonymous[Leu736Leu]
2225 .. 2225 C/A rs199922063 - CDS Nonsynonymous[Leu739Ile]
2241 .. 2241 T/C rs201370106 - CDS Nonsynonymous[Leu744Pro]
2257 .. 2257 G/A rs200756227 - CDS Synonymous[Thr749Thr]
2260 .. 2260 G/C rs201249108 - CDS Synonymous[Leu750Leu]
2261 .. 2261 A/C rs13181 - CDS Nonsynonymous[Lys751Gln]
2270 .. 2270 G/C rs200022901 - CDS Nonsynonymous[Glu754Gln]
2300 .. 2300 C/T rs199702504 - 3'UTR
2318 .. 2318 G/A rs200605760 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer