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H-Invitational ID: HIT000035527 Accession number: BC011901 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Keratin, type I cytoskeletal 17; 39.1; Cytokeratin-17; CK-17; Keratin-17; K17;

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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 6 .. 6 C/T rs149859406 - 5'UTR 7 .. 7 T/C rs71373433 - 5'UTR 39 .. 39 C/T rs14253 + 5'UTR 43 .. 43 G/C rs11553457 + 5'UTR 44 .. 44 C/T rs187586045 - 5'UTR 58 .. 58 T/A rs111676549 - CDS Nonsynonymous[Ser4Thr] 96 .. 96 C/G rs11553456 + CDS Synonymous[Gly16Gly] 102 .. 102 C/T rs200589130 - CDS Synonymous[Ser18Ser] 114 .. 114 C/A rs77202564 - CDS Synonymous[Gly22Gly] 137 .. 137 G/A/C rs2229512 + CDS 179 .. 179 C/T rs147943933 - CDS Nonsynonymous[Ser44Phe] 199 .. 199 A/T rs201047424 - CDS Nonsynonymous[Thr51Ser] 204 .. 204 C/T rs144844141 - CDS Synonymous[Leu52Leu] 227 .. 227 G/C rs200841795 - CDS Nonsynonymous[Cys60Ser] 230 .. 230 A/G rs142502852 - CDS Nonsynonymous[Tyr61Cys] 232 .. 232 A/G rs11553455 + CDS Nonsynonymous[Ser62Gly] 269 .. 269 G/T rs200102896 - CDS Nonsynonymous[Gly74Val] 273 .. 273 T/C rs199533432 - CDS Synonymous[Gly75Gly] 281 .. 281 G/C rs11553454 + CDS Nonsynonymous[Gly78Ala] 311 .. 311 T/A/C rs28928898 + CDS 322 .. 322 A/C/G rs28928896 + CDS 323 .. 323 A/G rs59151893 + CDS Nonsynonymous[Asn92Ser] 327 .. 327 C/T rs147702566 - CDS Synonymous[Asp93Asp] 328 .. 328 C/T rs58730926 + CDS Nonsynonymous[Arg94Cys] 329 .. 329 G/A/C rs28928897 + CDS 332 .. 332 T/A/C rs28928899 + CDS 340 .. 340 T/G rs28933088 + CDS Nonsynonymous[Tyr98Asp] 344 .. 344 T/C rs28933089 + CDS Nonsynonymous[Leu99Pro] 352 .. 352 G/A rs59977263 + CDS Nonsynonymous[Val102Met] 357 .. 357 T/C rs57436765 + CDS Synonymous[Arg103Arg] 367 .. 367 G/A rs150004075 - CDS Nonsynonymous[Glu107Lys] 370 .. 370 G/A rs11553460 + CDS Nonsynonymous[Ala108Thr] 373 .. 373 A/G rs267607412 + CDS Nonsynonymous[Asn109Asp] 420 .. 420 C/T rs200866964 - CDS Synonymous[Ala124Ala] 423 .. 423 G/A rs139279688 - CDS Synonymous[Pro125Pro] 495 .. 495 C/T/G rs150822982 - CDS 504 .. 504 T/C rs142252437 - CDS Synonymous[Asn152Asn] 524 .. 524 T/C rs191021601 - CDS Nonsynonymous[Ile159Thr] 535 .. 535 C/G rs185719691 - CDS Nonsynonymous[Arg163Gly] 556 .. 556 C/T rs115084509 - CDS Nonsynonymous[Arg170Cys] 565 .. 565 T/G rs199897890 - CDS Nonsynonymous[Phe173Val] 616 .. 616 C/T rs146261696 - CDS Synonymous[Leu190Leu] 636 .. 636 G/A rs182165448 - CDS Synonymous[Glu196Glu] 654 .. 654 C/T rs141781644 - CDS Synonymous[Ala202Ala] 657 .. 657 C/T rs113335985 - CDS Synonymous[Asp203Asp] 665 .. 665 T/C rs138650610 - CDS Nonsynonymous[Met206Thr] 671 .. 671 T/C rs199795046 - CDS Nonsynonymous[Ile208Thr] 714 .. 714 C/T rs150142591 - CDS Synonymous[His222His] 715 .. 715 G/A rs140804147 - CDS Nonsynonymous[Glu223Lys] 729 .. 729 C/T rs147053246 - CDS Synonymous[Asn227Asn] 737 .. 737 G/A rs137961542 - CDS Nonsynonymous[Arg230Gln] 740 .. 740 G/C rs1126846 + CDS Nonsynonymous[Gly231Ala] 774 .. 774 C/T rs141627308 - CDS Synonymous[Asp242Asp] 777 .. 777 T/G rs150297631 - CDS Synonymous[Ala243Ala] 787 .. 787 G/A rs141092585 - CDS Nonsynonymous[Val247Met] 799 .. 799 C/T rs139367104 - CDS Nonsynonymous[Arg251Cys] 818 .. 818 G/A rs200256057 - CDS Nonsynonymous[Arg257His] 832 .. 832 A/T rs146900210 - CDS AA-STOP[Lys262*] 861 .. 861 C/A rs142566077 - CDS Synonymous[Ala271Ala] 900 .. 900 C/T rs147718833 - CDS Synonymous[Arg284Arg] 950 .. 950 C/T rs142893574 - CDS Nonsynonymous[Ser301Leu] 951 .. 951 G/A rs148958331 - CDS Synonymous[Ser301Ser] 993 .. 993 G/T rs145738125 - CDS Nonsynonymous[Gln315His] 1012 .. 1012 G/A rs149778356 - CDS Nonsynonymous[Ala322Thr] 1041 .. 1041 A/G rs140015248 - CDS Synonymous[Thr331Thr] 1048 .. 1048 C/T rs146280868 - CDS Nonsynonymous[Arg334Cys] 1057 .. 1057 G/A rs143477910 - CDS Nonsynonymous[Val337Met] 1092 .. 1092 C/T rs202225209 - CDS Synonymous[Ser348Ser] 1093 .. 1093 G/A rs142267571 - CDS Nonsynonymous[Val349Met] 1109 .. 1109 C/T rs139939142 - CDS Nonsynonymous[Ala354Val] 1113 .. 1113 G/A rs112789035 - CDS Synonymous[Gln355Gln] 1160 .. 1160 T/C rs267607413 + CDS Nonsynonymous[Leu371Pro] 1161 .. 1161 G/T rs56162829 - CDS Synonymous[Leu371Leu] 1172 .. 1172 C/T rs199906402 - CDS Nonsynonymous[Thr375Met] 1174 .. 1174 C/T rs200744890 - CDS Nonsynonymous[Arg376Trp] 1175 .. 1175 G/A rs150564761 - CDS Nonsynonymous[Arg376Gln] 1211 .. 1211 T/C rs56690581 + CDS Nonsynonymous[Leu388Pro] 1238 .. 1238 A/T rs141710767 - CDS Nonsynonymous[Gln397Leu] 1268 .. 1268 A/G rs200282135 - CDS Nonsynonymous[Gln407Arg] 1302 .. 1302 C/T rs3894230 + CDS Synonymous[Gly418Gly] 1317 .. 1317 C/T rs189096143 - CDS Synonymous[Ser423Ser] 1319 .. 1319 G/A rs148013099 - CDS Nonsynonymous[Arg424His] 1323 .. 1323 G/A rs117941474 - CDS Synonymous[Glu425Glu] 1331 .. 1331 A/G rs4079061 + CDS Nonsynonymous[His428Arg] 1371 .. 1371 A/C rs1809199 + 3'UTR 1394 .. 1394 G/A rs141130122 - 3'UTR 1401 .. 1401 C/T rs1043462 + 3'UTR 1416 .. 1416 C/T rs148274114 - 3'UTR 1486 .. 1486 T/C rs111650206 - 3'UTR 1492 .. 1492 C/A rs144113122 - 3'UTR  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;