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H-Invitational ID: HIT000329449 Accession number: AB209514 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Lamin-B receptor; Integral nuclear envelope inner membrane protein; LMN2R;

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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 41 .. 41 C/T rs1056605 + 5'UTR 102 .. 102 C/T rs184378202 - CDS Synonymous[Ala7Ala] 124 .. 124 C/T rs192681330 - CDS AA-STOP[Arg15*] 130 .. 130 C/T rs188150385 - CDS Nonsynonymous[Pro17Ser] 171 .. 171 C/T rs2230416 + CDS Synonymous[His30His] 172 .. 172 G/A rs149920625 - CDS Nonsynonymous[Asp31Asn] 178 .. 178 A/G rs200756121 - CDS Nonsynonymous[Thr33Ala] 198 .. 198 A/G rs1056607 + CDS Synonymous[Val39Val] 200 .. 200 A/G rs144210597 - CDS Nonsynonymous[Lys40Arg] 317 .. 317 G/A rs150911670 - CDS Nonsynonymous[Arg79Gln] 342 .. 342 C/T rs1056608 + CDS Synonymous[Pro87Pro] 352 .. 352 C/T rs201003932 - CDS Nonsynonymous[Pro91Ser] 364 .. 364 C/T rs11551873 + CDS Nonsynonymous[Arg95Cys] 369 .. 369 A/G rs201694077 - CDS Synonymous[Arg96Arg] 387 .. 387 C/G rs199784853 - CDS Nonsynonymous[His102Gln] 393 .. 393 C/T rs146953852 - CDS Synonymous[Ala104Ala] 397 .. 397 A/G rs200648839 - CDS Nonsynonymous[Ile106Val] 434 .. 434 C/T rs138380180 - CDS Nonsynonymous[Thr118Ile] 437 .. 437 C/T rs137852605 + CDS Nonsynonymous[Pro119Leu] 438 .. 438 G/A rs150177807 - CDS Synonymous[Pro119Pro] 452 .. 452 C/A rs201699817 - CDS Nonsynonymous[Pro124Gln] 462 .. 462 T/C rs150998038 - CDS Synonymous[Asn127Asn] 510 .. 510 C/T rs190140540 - CDS Synonymous[Asp143Asp] 542 .. 542 A/G rs2230419 + CDS Nonsynonymous[Asn154Ser] 568 .. 568 G/C rs144270114 - CDS Nonsynonymous[Ala163Pro] 586 .. 586 C/T rs2230420 + CDS Nonsynonymous[Arg169Cys] 642 .. 642 C/T rs151100686 - CDS Synonymous[Tyr187Tyr] 643 .. 643 G/A rs199796274 - CDS Nonsynonymous[Val188Ile] 656 .. 656 T/G rs149760565 - CDS Nonsynonymous[Leu192Arg] 661 .. 661 G/A rs139988587 - CDS Nonsynonymous[Val194Met] 669 .. 669 C/G rs138462331 - CDS Synonymous[Thr196Thr] 680 .. 680 C/A rs200288588 - CDS Nonsynonymous[Thr200Asn] 689 .. 689 G/A rs142747191 - CDS Nonsynonymous[Arg203Gln] 737 .. 737 T/C rs2230421 + CDS Nonsynonymous[Met219Thr] 740 .. 740 T/C rs201056244 - CDS Nonsynonymous[Phe220Ser] 824 .. 824 C/T rs140008883 - CDS Nonsynonymous[Pro248Leu] 827 .. 827 C/A rs200781118 - CDS Nonsynonymous[Ala249Asp] 871 .. 871 C/T rs140355742 - CDS Synonymous[Leu264Leu] 892 .. 892 C/T rs34682825 - CDS Synonymous[Leu271Leu] 924 .. 924 A/G rs61749339 - CDS Synonymous[Val281Val] 930 .. 930 A/C rs199886849 - CDS Synonymous[Gly283Gly] 941 .. 941 T/C rs201093644 - CDS Nonsynonymous[Ile287Thr] 947 .. 947 G/A rs148541545 - CDS Nonsynonymous[Gly289Glu] 980 .. 980 A/G rs2230422 + CDS Nonsynonymous[Tyr300Cys] 982 .. 982 G/C rs1134839 + CDS Nonsynonymous[Ala301Pro] 1008 .. 1008 C/T rs143164834 - CDS Synonymous[Ile309Ile] 1012 .. 1012 A/G rs2275601 + CDS Nonsynonymous[Thr311Ala] 1029 .. 1029 C/T rs139528051 - CDS Synonymous[Gly316Gly] 1032 .. 1032 A/G rs199748938 - CDS Synonymous[Val317Val] 1040 .. 1040 A/G rs201654506 - CDS Nonsynonymous[His320Arg] 1045 .. 1045 G/A rs145104817 - CDS Nonsynonymous[Val322Met] 1072 .. 1072 C/G rs201609720 - CDS Nonsynonymous[Leu331Val] 1076 .. 1076 C/T rs141647564 - CDS Nonsynonymous[Ala332Val] 1120 .. 1120 C/T rs141837466 - CDS Nonsynonymous[Arg347Cys] 1138 .. 1138 C/T rs138731836 - CDS Nonsynonymous[Arg353Trp] 1151 .. 1151 C/T rs149077819 - CDS Nonsynonymous[Ser357Leu] 1152 .. 1152 G/A rs112582692 - CDS Synonymous[Ser357Ser] 1153 .. 1153 C/T rs145328578 - CDS Nonsynonymous[Pro358Ser] 1163 .. 1163 C/T rs61731741 - CDS Nonsynonymous[Ser361Phe] 1171 .. 1171 G/A rs192884088 - CDS Nonsynonymous[Ala364Thr] 1195 .. 1195 C/T rs200180113 - CDS Nonsynonymous[Arg372Cys] 1235 .. 1235 A/G rs199944519 - CDS Nonsynonymous[Tyr385Cys] 1239 .. 1239 T/C rs140194269 - CDS Synonymous[Phe386Phe] 1318 .. 1318 C/T rs144672633 - CDS Nonsynonymous[Arg413Cys] 1320 .. 1320 C/T rs149483088 - CDS Synonymous[Arg413Arg] 1359 .. 1359 C/G rs139059920 - CDS Nonsynonymous[Phe426Leu] 1370 .. 1370 A/G rs138769892 - CDS Nonsynonymous[Tyr430Cys] 1381 .. 1381 G/T rs141750416 - CDS Nonsynonymous[Ala434Ser] 1405 .. 1405 T/C rs61749338 - CDS Synonymous[Leu442Leu] 1410 .. 1410 G/C rs200550770 - CDS Synonymous[Thr443Thr] 1412 .. 1412 C/A rs186333444 - CDS Nonsynonymous[Thr444Asn] 1414 .. 1414 A/G rs148033978 - CDS Nonsynonymous[Met445Val] 1428 .. 1428 C/T rs147681505 - CDS Synonymous[His449His] 1431 .. 1431 T/C rs146355121 - CDS Synonymous[Asp450Asp] 1443 .. 1443 C/T rs141510343 - CDS Synonymous[Phe454Phe] 1480 .. 1480 A/T rs201212744 - CDS Nonsynonymous[Ile467Phe] 1609 .. 1609 G/A rs78828796 - CDS Nonsynonymous[Ala510Thr] 1625 .. 1625 C/T rs138835126 - CDS Nonsynonymous[Pro515Leu] 1639 .. 1639 C/G rs201172537 - CDS Nonsynonymous[Leu520Val] 1690 .. 1690 T/G rs80299691 - CDS Nonsynonymous[Ser537Ala] 1751 .. 1751 C/T rs202123513 - CDS Nonsynonymous[Ala557Val] 1752 .. 1752 G/A rs151087316 - CDS Synonymous[Ala557Ala] 1762 .. 1762 C/G rs192296368 - CDS Nonsynonymous[Pro561Ala] 1787 .. 1787 C/G rs137852606 + CDS Nonsynonymous[Pro569Arg] 1789 .. 1789 T/C rs146204188 - CDS Nonsynonymous[Tyr570His] 1811 .. 1811 C/T rs143181005 - CDS Nonsynonymous[Thr577Ile] 1837 .. 1837 C/T rs199675363 - CDS Nonsynonymous[Arg586Cys] 1842 .. 1842 C/T rs149534786 - CDS Synonymous[Asp587Asp] 1843 .. 1843 G/A rs138067182 - CDS Nonsynonymous[Glu588Lys] 1883 .. 1883 A/C rs141243190 - CDS Nonsynonymous[Lys601Thr] 1945 .. 1945 T/G rs201103298 - 3'UTR 1994 .. 1994 A/G rs190693979 - 3'UTR 2030 ^ 2031 -/G rs34846453 - 3'UTR 2125 .. 2125 A/G rs113990759 - 3'UTR 2185 .. 2185 C/G rs11551874 - 3'UTR 2260 .. 2260 T/G rs16844841 - 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;