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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000339586 Accession number: BC110522 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to 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
5 .. 5 C/T rs199992963 - 5'UTR
21 .. 21 C/T rs200753327 - 5'UTR
34 .. 34 G/C rs200443634 - CDS Nonsynonymous[Lys2Asn]
70 .. 70 C/T rs141622611 - CDS Synonymous[Tyr14Tyr]
75 .. 75 A/G rs147972150 - CDS Nonsynonymous[Tyr16Cys]
82 .. 82 C/T rs143614672 - CDS Synonymous[Tyr18Tyr]
100 .. 100 C/T rs41549115 + CDS Synonymous[Tyr24Tyr]
166 .. 166 C/T rs141391238 - CDS Synonymous[Thr46Thr]
175 .. 175 A/T rs147826890 - CDS Synonymous[Thr49Thr]
184 .. 184 G/A rs202156896 - CDS Synonymous[Leu52Leu]
231 ^ 232 -/C rs66931858 - CDS
244 .. 244 C/T rs200559616 - CDS Synonymous[Tyr72Tyr]
322 .. 322 G/C rs145947678 - CDS Nonsynonymous[Glu98Asp]
325 .. 325 C/T rs200953364 - CDS Synonymous[Gly99Gly]
330 .. 330 A/C rs201123342 - CDS Nonsynonymous[Lys101Thr]
336 .. 336 C/T rs142462393 - CDS Nonsynonymous[Pro103Leu]
363 .. 363 G/A rs121913020 + CDS Nonsynonymous[Arg112His]
391 .. 391 C/G rs1799791 + CDS Nonsynonymous[Ile121Met]
395 .. 395 C/T rs1799792 + CDS Nonsynonymous[His123Tyr]
427 .. 427 C/T rs112910027 - CDS Synonymous[Tyr133Tyr]
473 .. 473 C/T rs137910235 - CDS Nonsynonymous[Arg149Cys]
474 .. 474 G/A rs150708456 - CDS Nonsynonymous[Arg149His]
481 .. 481 C/T rs34021577 - CDS Synonymous[Ala151Ala]
485 .. 485 G/A rs200895828 - CDS Nonsynonymous[Val153Met]
493 .. 493 C/T rs141816180 - CDS Synonymous[Phe155Phe]
696 .. 696 C/A rs199863965 - CDS Nonsynonymous[Thr223Lys]
728 .. 728 A/G rs1799793 + CDS Nonsynonymous[Asn234Asp]
782 .. 782 C/T rs146022050 - CDS Synonymous[Leu252Leu]
926 .. 926 C/T rs186220206 - CDS Nonsynonymous[Arg300Cys]
927 .. 927 G/A rs200043231 - CDS Nonsynonymous[Arg300His]
1024 .. 1024 C/T rs142184249 - CDS Synonymous[Tyr332Tyr]
1060 .. 1060 C/T rs142702501 - CDS Synonymous[Asp344Asp]
1061 .. 1061 G/A rs143710107 - CDS Nonsynonymous[Asp345Asn]
1072 .. 1072 G/A rs148469762 - CDS Synonymous[Pro348Pro]
1087 .. 1087 C/T rs145729219 - CDS Synonymous[Pro353Pro]
1111 .. 1111 C/T rs200588470 - CDS Synonymous[Asp361Asp]
1117 .. 1117 G/A rs147850061 - CDS Synonymous[Ser363Ser]
1133 .. 1133 G/A rs141457460 - CDS Nonsynonymous[Val369Ile]
1137 .. 1137 T/C rs41559922 + CDS Nonsynonymous[Phe370Ser]
1143 .. 1143 G/A rs146632315 - CDS Nonsynonymous[Arg372His]
1148 .. 1148 C/T rs199643821 - CDS AA-STOP[Gln374*]
1175 .. 1175 C/G rs121913016 + CDS Nonsynonymous[Leu383Val]
1246 .. 1246 G/A rs139370246 - CDS Synonymous[Thr406Thr]
1248 .. 1248 T/C rs121913025 + CDS Nonsynonymous[Leu407Pro]
1254 .. 1254 G/A rs150865508 - CDS Nonsynonymous[Arg409Gln]
1283 .. 1283 C/T rs199738290 - CDS Nonsynonymous[Arg419Cys]
1354 .. 1354 T/C rs200450814 - CDS Synonymous[Tyr442Tyr]
1378 .. 1378 C/A rs199551160 - CDS Synonymous[Ser450Ser]
1400 .. 1400 G/A rs142568756 - CDS Nonsynonymous[Val458Met]
1415 .. 1415 A/C rs121913019 + CDS Nonsynonymous[Ser463Arg]
1426 .. 1426 C/T rs147605089 - CDS Synonymous[Tyr466Tyr]
1435 .. 1435 C/T rs144456449 - CDS Synonymous[Ser469Ser]
1439 .. 1439 G/A rs199778239 - CDS Nonsynonymous[Val471Met]
1498 .. 1498 T/C rs141944141 - CDS Synonymous[Phe490Phe]
1499 .. 1499 A/T rs74792417 - CDS Nonsynonymous[Ile491Phe]
1519 .. 1519 C/T rs116544270 - CDS Synonymous[Ala497Ala]
1520 .. 1520 G/A rs201165309 - CDS Nonsynonymous[Glu498Lys]
1531 .. 1531 C/T rs3916876 + CDS Synonymous[Val501Val]
1568 .. 1568 C/T rs190678702 - CDS Nonsynonymous[Arg514Cys]
1569 .. 1569 G/A rs147224585 - CDS Nonsynonymous[Arg514His]
1570 .. 1570 C/T rs143680124 - CDS Synonymous[Arg514Arg]
1583 .. 1583 C/T rs138038607 - CDS Synonymous[Leu519Leu]
1588 .. 1588 A/C rs150346978 - CDS Synonymous[Ser520Ser]
1596 .. 1596 G/A rs140522180 - CDS Nonsynonymous[Arg523Gln]
1636 .. 1636 C/T rs148319713 - CDS Synonymous[Tyr536Tyr]
1640 .. 1640 C/T rs121913024 + CDS Nonsynonymous[Arg538Trp]
1659 .. 1659 G/T rs200147400 - CDS Nonsynonymous[Gly544Val]
1660 .. 1660 C/T rs16979773 + CDS Synonymous[Gly544Gly]
1669 .. 1669 C/T rs146538967 - CDS Synonymous[Tyr547Tyr]
1670 .. 1670 G/A rs139002770 - CDS Nonsynonymous[Val548Ile]
1681 .. 1681 G/C rs200665173 - CDS Nonsynonymous[Gln551His]
1685 .. 1685 C/T/G rs144511865 - CDS
1698 .. 1698 C/T rs34517175 - CDS Nonsynonymous[Ala557Val]
1699 .. 1699 G/A rs145835916 - CDS Synonymous[Ala557Ala]
1734 .. 1734 G/T rs149818919 - CDS Nonsynonymous[Arg569Leu]
1766 .. 1766 C/T rs121913021 + CDS Nonsynonymous[Arg580Cys]
1786 .. 1786 G/C rs139110854 - CDS Synonymous[Val586Val]
1809 .. 1809 C/T rs200438494 - CDS Nonsynonymous[Thr594Met]
1822 .. 1822 C/T rs113157435 - CDS Synonymous[Leu598Leu]
1835 .. 1835 G/A rs121913023 + CDS Nonsynonymous[Asp603Asn]
1841 .. 1841 C/T rs41556519 + CDS Nonsynonymous[Arg605Trp]
1850 .. 1850 C/T rs144277365 - CDS Nonsynonymous[Arg608Cys]
1876 ^ 1877 -/C rs67735199 - CDS
1877 .. 1877 C/T rs201392911 - CDS Nonsynonymous[Arg617Cys]
1908 .. 1908 A/G rs140296400 - CDS Nonsynonymous[Asn627Ser]
1921 .. 1921 C/T rs147128863 - CDS Synonymous[Thr631Thr]
1922 .. 1922 G/A rs141808167 - CDS Nonsynonymous[Val632Met]
1927 .. 1927 T/C rs1052555 + CDS Synonymous[Asp633Asp]
1931 .. 1931 G/C rs121913022 + CDS Nonsynonymous[Gly635Arg]
1944 .. 1944 C/G rs144564120 - CDS Nonsynonymous[Ala639Gly]
1958 .. 1958 C/T rs121913026 + CDS Nonsynonymous[Arg644Trp]
1959 .. 1959 G/A rs138569838 - CDS Nonsynonymous[Arg644Gln]
1967 .. 1967 G/C rs121913018 + CDS Nonsynonymous[Ala647Pro]
1970 .. 1970 C/T rs121913017 + CDS AA-STOP[Gln648*]
1989 .. 1989 A/G rs201828535 - CDS Nonsynonymous[Asp654Gly]
2002 .. 2002 G/A rs145067933 - CDS Synonymous[Leu658Leu]
2009 .. 2009 C/A rs199922063 - CDS Nonsynonymous[Leu661Ile]
2025 .. 2025 T/C rs201370106 - CDS Nonsynonymous[Leu666Pro]
2041 .. 2041 G/A rs200756227 - CDS Synonymous[Thr671Thr]
2044 .. 2044 G/C rs201249108 - CDS Synonymous[Leu672Leu]
2045 .. 2045 C/A rs13181 - CDS Nonsynonymous[Gln673Lys]
2054 .. 2054 G/C rs200022901 - CDS Nonsynonymous[Glu676Gln]
2084 .. 2084 C/T rs199702504 - 3'UTR
2102 .. 2102 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