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H-Invitational ID: HIT000193129 Accession number: L34084 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: MHC class II HLA-DQ-alpha chain; Fragment;

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 21 .. 21 C/T rs12722043 + CDS Synonymous[His7His] 21 .. 21 C/T rs1129737 + CDS Synonymous[His7His] 24 .. 24 T/C rs9272688 + CDS Synonymous[Val8Val] 24 .. 24 T/C rs79808132 + CDS Synonymous[Val8Val] 24 .. 24 T/C rs1129738 + CDS Synonymous[Val8Val] 32 .. 32 G/A rs1129740 + CDS Nonsynonymous[Cys11Tyr] 32 .. 32 G/A rs76832557 + CDS Nonsynonymous[Cys11Tyr] 32 .. 32 G/A rs78025123 + CDS Nonsynonymous[Cys11Tyr] 33 .. 33 T/C rs3205916 + CDS Synonymous[Cys11Cys] 39 .. 39 A/G rs1129742 + CDS Synonymous[Val13Val] 45 .. 45 G/C rs1129744 + CDS Nonsynonymous[Leu15Phe] 53 .. 53 T/C rs1071630 + CDS Nonsynonymous[Phe18Ser] 53 .. 53 T/C rs80027061 + CDS Nonsynonymous[Phe18Ser] 57 .. 57 C/T rs1129753 + CDS Synonymous[Tyr19Tyr] 62 .. 62 C/T rs41549715 + CDS Nonsynonymous[Pro21Leu] 69 .. 69 C/G rs12722050 + CDS Synonymous[Gly23Gly] 69 .. 69 C/G rs1129759 + CDS Synonymous[Gly23Gly] 74 .. 74 A/T rs12722051 + CDS Nonsynonymous[Tyr25Phe] 74 .. 74 A/T rs77275271 + CDS Nonsynonymous[Tyr25Phe] 77 .. 77 C/G rs3188011 + CDS Nonsynonymous[Thr26Ser] 77 .. 77 C/G rs1048023 + CDS Nonsynonymous[Thr26Ser] 92 .. 92 G/A rs112029808 - CDS Nonsynonymous[Gly31Glu] 96 .. 96 T/C rs1048027 + CDS Synonymous[Asp32Asp] 100 .. 100 C/G rs10093 + CDS Nonsynonymous[Gln34Glu] 108 .. 108 C/A/G/T rs1129765 + CDS 119 .. 119 A/G rs1142323 + CDS Nonsynonymous[Glu40Gly] 122 .. 122 G/A rs36219699 - CDS Nonsynonymous[Arg41Lys] 130 .. 130 A/G rs41543221 + CDS Nonsynonymous[Thr44Ala] 134 .. 134 C/T rs1142324 + CDS Nonsynonymous[Ala45Val] 139 .. 139 C/A/T rs1142326 + CDS 140 .. 140 G/A rs3207983 + CDS Nonsynonymous[Arg47Gln] 141 .. 141 G/T rs3207984 + CDS Synonymous[Arg47Arg] 143 .. 143 G/T rs1142328 + CDS Nonsynonymous[Trp48Leu] 148 .. 148 G/C rs12722061 + CDS Nonsynonymous[Glu50Gln] 149 .. 149 A/T rs3208105 + CDS Nonsynonymous[Glu50Val] 150 .. 150 G/T rs9272697 + CDS Nonsynonymous[Glu50Asp] 151 .. 151 T/C rs9272698 + CDS Nonsynonymous[Phe51Leu] 155 .. 155 G/A rs28383449 + CDS Nonsynonymous[Ser52Asn] 156 .. 156 C/A rs9272699 + CDS Nonsynonymous[Ser52Arg] 157 .. 157 A/C/G/T rs1048052 + CDS 158 .. 158 A/G rs12722069 + CDS Nonsynonymous[Lys53Arg] 160 .. 160 T/C rs3188043 + CDS Nonsynonymous[Phe54Leu] 163 .. 163 G/-/A/AGA rs4193 + CDS 166 .. 166 G/-/A rs12722072 + CDS 167 .. 167 G/- rs41556812 + CDS 168 .. 168 T/-/A rs12722074 + CDS 176 .. 176 C/G rs41541412 + CDS Nonsynonymous[Pro59Arg] 180 .. 180 G/A rs9272702 + CDS Synonymous[Gln60Gln] 181 .. 181 G/T rs1142331 + CDS Nonsynonymous[Gly61Cys] 182 .. 182 G/T rs1142332 + CDS Nonsynonymous[Gly61Val] 191 .. 191 G/C rs1142333 + CDS Nonsynonymous[Arg64Thr] 198 .. 198 G/C rs1142334 + CDS Nonsynonymous[Met66Ile] 201 .. 201 T/C/G rs1048491 + CDS 204 .. 204 G/C rs3188501 + CDS Synonymous[Val68Val] 205 .. 205 G/A/C rs1142335 + CDS 206 .. 206 C/T rs9272709 + CDS Nonsynonymous[Ala69Val] 213 .. 213 C/T rs1048087 + CDS Synonymous[His71His] 223 ^ 224 -/G rs9282026 + CDS 224 .. 224 T/-/A/G rs9279910 + CDS 225 .. 225 C/T rs36219014 - CDS Synonymous[Ile75Ile] 226 .. 226 A/C/G rs1064944 + CDS 235 .. 235 C/T rs41542116 + CDS Nonsynonymous[Arg79Cys] 239 .. 239 A/C rs1129808 + CDS Nonsynonymous[Tyr80Ser] 249 .. 249 C/T rs1142338 + CDS Synonymous[Thr83Thr] 293 .. 293 C/T rs1048122 + CDS Nonsynonymous[Ser98Phe] 297 .. 297 C/T rs1048124 + CDS Synonymous[Pro99Pro] 303 .. 303 A/G rs1048134 + CDS Synonymous[Thr101Thr] 304 .. 304 C/G rs41555012 + CDS Nonsynonymous[Leu102Val] 320 .. 320 C/T rs707952 + CDS Nonsynonymous[Thr107Ile] 320 .. 320 C/T rs75269270 - CDS Nonsynonymous[Thr107Ile] 327 .. 327 C/T rs707951 + CDS Synonymous[Ile109Ile] 327 .. 327 C/T rs75904915 + CDS Synonymous[Ile109Ile] 369 .. 369 A/C rs1048173 + CDS Synonymous[Thr123Thr] 387 .. 387 G/C rs707950 + CDS Nonsynonymous[Gln129His] 387 .. 387 G/C rs74438353 + CDS Nonsynonymous[Gln129His] 387 .. 387 G/C rs113584233 + CDS Nonsynonymous[Gln129His] 387 .. 387 G/C rs75794836 + CDS Nonsynonymous[Gln129His] 388 .. 388 T/G rs41547417 + CDS Nonsynonymous[Ser130Ala] 388 .. 388 T/G rs74646061 + CDS Nonsynonymous[Ser130Ala] 388 .. 388 T/G rs34078100 - CDS Nonsynonymous[Ser130Ala] 413 .. 413 C/T rs41545514 + CDS Nonsynonymous[Thr138Ile] 415 .. 415 A/C rs41552014 + CDS Nonsynonymous[Ser139Arg] 416 .. 416 G/T rs41544114 + CDS Nonsynonymous[Ser139Ile] 457 .. 457 T/C rs41550317 + CDS Nonsynonymous[Tyr153His] 466 .. 466 T/C rs707949 + CDS Nonsynonymous[Phe156Leu] 466 .. 466 T/C rs34847266 - CDS Nonsynonymous[Phe156Leu] 478 .. 478 G/T rs41561312 + CDS Nonsynonymous[Ala160Ser] 479 .. 479 C/A rs7990 + CDS Nonsynonymous[Ala160Asp] 479 .. 479 C/A rs79809169 + CDS Nonsynonymous[Ala160Asp] 483 .. 483 T/G rs707963 + CDS Nonsynonymous[Asp161Glu] 483 .. 483 T/G rs35999171 - CDS Nonsynonymous[Asp161Glu] 488 .. 488 T/G rs707962 + CDS Nonsynonymous[Ile163Ser] 488 .. 488 T/G rs34517295 - CDS Nonsynonymous[Ile163Ser] 516 .. 516 C/A rs2308889 + CDS Synonymous[Gly172Gly] 522 .. 522 C/T rs2308890 + CDS Synonymous[Asp174Asp] 522 .. 522 C/T rs17415959 + CDS Synonymous[Asp174Asp] 523 .. 523 C/A/G rs2308891 + CDS 523 .. 523 C/A/G rs1129957 + CDS 523 .. 523 C/A rs75833253 + CDS Nonsynonymous[Gln175Lys] 559 .. 559 G/A rs9272785 + CDS Nonsynonymous[Ala187Thr] 561 .. 561 C/A rs80031910 + CDS Synonymous[Ala187Ala] 561 .. 561 C/A rs3188543 + CDS Synonymous[Ala187Ala] 586 .. 586 G/T rs1048363 + CDS Nonsynonymous[Val196Leu] 594 .. 594 T/C rs1048372 + CDS Synonymous[Cys198Cys] 594 .. 594 T/C rs75214833 + CDS Synonymous[Cys198Cys] 594 .. 594 T/C rs79795281 + CDS Synonymous[Cys198Cys] 595 .. 595 G/A rs35087390 - CDS Nonsynonymous[Ala199Thr] 603 .. 603 G/A rs1048381 + CDS Synonymous[Gly201Gly] 619 .. 619 A/G rs9260 + CDS Nonsynonymous[Met207Val] 619 .. 619 A/G rs79227448 + CDS Nonsynonymous[Met207Val] 619 .. 619 A/G rs80176586 + CDS Nonsynonymous[Met207Val] 619 .. 619 A/G rs35029979 - CDS Nonsynonymous[Met207Val] 622 .. 622 G/T rs41545416 + CDS Nonsynonymous[Gly208Cys] 636 .. 636 C/G rs1048414 + CDS Synonymous[Gly212Gly] 639 .. 639 T/C rs1048419 + CDS Synonymous[Thr213Thr] 645 .. 645 C/G rs1048430 + CDS Nonsynonymous[Phe215Leu] 645 .. 645 C/G rs34494013 - CDS Nonsynonymous[Phe215Leu] 653 .. 653 A/G rs9272793 + CDS Nonsynonymous[Gln218Arg] 653 .. 653 A/G rs77143934 + CDS Nonsynonymous[Gln218Arg]  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;