H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000484991 Accession number: EU515155 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
 
 

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
99 .. 99 C/A rs6741336 + 5'UTR
234 .. 234 C/T rs199569685 + 5'UTR
244 .. 244 G/T rs192358316 + 5'UTR
323 .. 323 G/A rs140603487 + CDS Nonsynonymous[Asp16Asn]
402 .. 402 T/G rs199772109 + CDS Nonsynonymous[Val42Gly]
475 .. 475 T/C rs182555653 + CDS Synonymous[His66His]
479 .. 479 G/C rs114986640 + CDS Nonsynonymous[Val68Leu]
481 .. 481 G/A rs143247586 + CDS Synonymous[Val68Val]
485 .. 485 A/G rs186523644 + CDS Nonsynonymous[Lys70Glu]
492 .. 492 A/G rs192395031 + CDS Nonsynonymous[His72Arg]
499 .. 499 G/A rs200957354 + CDS Synonymous[Thr74Thr]
502 .. 502 G/A rs143761164 + CDS Nonsynonymous[Met75Ile]
553 .. 553 C/T rs138870937 + CDS Synonymous[Leu92Leu]
582 .. 582 A/G rs201834175 + CDS Nonsynonymous[Asn102Ser]
624 .. 624 C/T rs199677396 + CDS Nonsynonymous[Ser116Leu]
660 .. 660 G/A rs34997054 - CDS Nonsynonymous[Gly128Glu]
670 .. 670 C/T rs34603128 - CDS Synonymous[Pro131Pro]
703 .. 703 C/T rs115390288 + CDS Synonymous[Ser142Ser]
705 .. 705 C/A rs139654844 + CDS Nonsynonymous[Pro143Gln]
717 .. 717 A/G rs113919086 + CDS Nonsynonymous[Asp147Gly]
736 .. 736 C/T rs72898896 + CDS Synonymous[Gly153Gly]
833 .. 833 G/A rs200970855 + CDS Nonsynonymous[Gly186Arg]
839 .. 839 G/A rs151054827 + CDS Nonsynonymous[Glu188Lys]
847 .. 847 C/T rs201335551 + CDS Synonymous[Asp190Asp]
862 .. 862 A/G rs141002437 + CDS Synonymous[Gly195Gly]
866 .. 866 A/C rs142265349 + CDS Nonsynonymous[Thr197Pro]
879 .. 879 C/A rs34999029 - CDS Nonsynonymous[Ala201Glu]
902 .. 902 G/A rs143562525 + CDS Nonsynonymous[Gly209Arg]
910 .. 910 G/T rs185711021 + CDS Synonymous[Pro211Pro]
922 .. 922 C/T rs201607397 + CDS Synonymous[Thr215Thr]
935 .. 935 C/G rs13407355 + CDS Nonsynonymous[Leu220Val]
940 .. 940 T/C rs35392229 - CDS Synonymous[Pro221Pro]
951 .. 951 C/A rs201980470 + CDS Nonsynonymous[Pro225Gln]
956 .. 956 C/A rs146382803 + CDS Nonsynonymous[His227Asn]
992 .. 992 A/G rs150029218 + CDS Nonsynonymous[Thr239Ala]
1008 .. 1008 T/C rs148739795 + CDS Nonsynonymous[Leu244Pro]
1020 .. 1020 C/T rs147876220 + CDS Nonsynonymous[Pro248Leu]
1040 .. 1040 G/A rs145360241 + CDS Nonsynonymous[Val255Ile]
1046 .. 1046 G/A rs150345121 + CDS Nonsynonymous[Val257Met]
1048 .. 1048 G/A rs201797348 + CDS Synonymous[Val257Val]
1051 .. 1051 C/T rs138054675 + CDS Synonymous[Ile258Ile]
1068 .. 1068 C/T rs143053635 + CDS Nonsynonymous[Pro264Leu]
1071 .. 1071 G/A rs141497053 + CDS Nonsynonymous[Gly265Glu]
1072 .. 1072 G/A rs138466537 + CDS Synonymous[Gly265Gly]
1077 .. 1077 A/C rs150917600 + CDS Nonsynonymous[Asn267Thr]
1127 .. 1127 C/T rs149827237 + CDS Nonsynonymous[Arg284Trp]
1128 .. 1128 G/A rs140002194 + CDS Nonsynonymous[Arg284Gln]
1159 .. 1159 T/G rs201550600 + CDS Nonsynonymous[Asn294Lys]
1210 .. 1210 G/T rs111581279 + CDS Nonsynonymous[Glu311Asp]
1219 .. 1219 T/C rs147675576 + CDS Synonymous[Phe314Phe]
1252 .. 1252 A/T rs112007817 + CDS Synonymous[Thr325Thr]
1264 .. 1264 C/T rs140809078 + CDS Synonymous[Leu329Leu]
1265 .. 1265 G/A/T rs121908963 + CDS
1274 .. 1274 C/T rs184771575 + CDS Nonsynonymous[Arg333Trp]
1282 .. 1282 C/T rs146687581 + CDS Synonymous[Asp335Asp]
1312 .. 1312 C/T rs36122356 - CDS Synonymous[His345His]
1339 .. 1339 C/G rs143370670 + CDS Synonymous[Leu354Leu]
1419 .. 1419 C/T rs115279465 + CDS Nonsynonymous[Ala381Val]
1423 .. 1423 T/G rs199955501 + CDS Synonymous[Pro382Pro]
1490 .. 1490 G/C rs150724610 + CDS Nonsynonymous[Val405Leu]
1523 .. 1523 G/A rs200281572 + CDS Nonsynonymous[Val416Ile]
1555 .. 1555 C/T rs147244033 + CDS Synonymous[Asp426Asp]
1562 .. 1562 G/A rs144202114 + CDS Nonsynonymous[Val429Met]
1585 .. 1585 C/T rs148697028 + CDS Synonymous[Ile436Ile]
1603 .. 1603 C/A rs143355224 + CDS Nonsynonymous[Asn442Lys]
1644 .. 1644 C/T rs146588926 + CDS Nonsynonymous[Ala456Val]
1645 .. 1645 G/A/C rs140667960 + CDS
1681 .. 1681 G/A/T rs150093305 + CDS
1721 .. 1721 A/G rs141818764 + CDS Nonsynonymous[Met482Val]
1723 .. 1723 G/A rs146064054 + CDS Nonsynonymous[Met482Ile]
1732 .. 1732 C/T rs200803090 + CDS Synonymous[Ser485Ser]
1738 .. 1738 C/T rs202044973 + CDS Synonymous[Cys487Cys]
1739 .. 1739 G/A rs61740288 + CDS Nonsynonymous[Glu488Lys]
1755 .. 1755 G/A rs199879861 + CDS Nonsynonymous[Arg493His]
1768 .. 1768 G/A rs141400095 + CDS AA-STOP[Trp497*]
1772 .. 1772 C/T rs185119682 + CDS Nonsynonymous[Arg499Cys]
1792 .. 1792 C/T rs34387018 - CDS Synonymous[Ile505Ile]
1818 .. 1818 C/T rs139258703 + CDS Nonsynonymous[Ser514Leu]
1878 .. 1878 C/T rs144931729 + CDS Nonsynonymous[Ser534Leu]
1882 .. 1882 A/T rs149066183 + CDS Nonsynonymous[Lys535Asn]
1925 .. 1925 G/A rs121908962 + CDS Nonsynonymous[Gly550Arg]
1942 .. 1942 C/T rs139495331 + CDS Synonymous[Asn555Asn]
1984 .. 1984 C/A rs180970066 + CDS Synonymous[Pro569Pro]
1990 .. 1990 A/G rs147101870 + CDS Synonymous[Thr571Thr]
2000 .. 2000 A/C rs201443353 + CDS Nonsynonymous[Thr575Pro]
2009 .. 2009 G/A rs200236226 + CDS Nonsynonymous[Gly578Arg]
2037 .. 2037 T/C rs200916654 + CDS Nonsynonymous[Leu587Pro]
2092 .. 2092 C/T rs199554105 + CDS Synonymous[Asp605Asp]
2100 .. 2100 C/T rs201515915 + CDS Nonsynonymous[Ala608Val]
2101 .. 2101 G/A rs35984374 - CDS Synonymous[Ala608Ala]
2114 .. 2114 C/T rs149386446 + CDS Nonsynonymous[Arg613Trp]
2125 .. 2125 G/T rs144675204 + CDS Nonsynonymous[Lys616Asn]
2140 ^ 2141 -/C rs34644852 + CDS
2157 .. 2157 C/T rs146261069 + CDS Nonsynonymous[Ala627Val]
2183 .. 2183 C/T rs121908953 + CDS AA-STOP[Gln636*]
2197 .. 2197 T/C rs2303596 + CDS Synonymous[Asp640Asp]
2222 .. 2222 G/A rs201049092 + CDS Nonsynonymous[Gly649Arg]
2230 .. 2230 C/T rs35721373 - CDS Synonymous[Tyr651Tyr]
2236 .. 2236 C/G rs141080184 + CDS Nonsynonymous[Asn653Lys]
2239 .. 2239 G/A rs147738382 + CDS Synonymous[Lys654Lys]
2243 .. 2243 G/A/T rs121908960 + CDS
2247 .. 2247 T/C rs141867897 + CDS Nonsynonymous[Met657Thr]
2260 .. 2260 G/A rs115849497 + CDS Synonymous[Pro661Pro]
2286 .. 2286 G/A rs150417363 + CDS Nonsynonymous[Arg670His]
2300 .. 2300 G/A rs200195517 + CDS Nonsynonymous[Gly675Arg]
2332 .. 2332 C/T rs199565036 + CDS Synonymous[Asn685Asn]
2333 .. 2333 G/A rs200611218 + CDS Nonsynonymous[Val686Met]
2336 .. 2336 A/G rs139754493 + CDS Nonsynonymous[Lys687Glu]
2350 .. 2350 G/A rs138111360 + CDS Synonymous[Val691Val]
2361 .. 2361 A/C rs200380100 + CDS Nonsynonymous[Tyr695Ser]
2375 .. 2375 A/G rs113450735 + CDS Nonsynonymous[Ser700Gly]
2404 .. 2404 G/T rs200541431 + CDS Synonymous[Leu709Leu]
2420 .. 2420 C/T rs148652047 + CDS Nonsynonymous[Arg715Trp]
2423 .. 2423 C/G rs74423119 + CDS Nonsynonymous[Leu716Val]
2463 .. 2463 C/T rs145007061 + CDS Nonsynonymous[Ala729Val]
2464 .. 2464 G/A rs201239189 + CDS Synonymous[Ala729Ala]
2467 .. 2467 G/A rs149864346 + CDS Synonymous[Gln730Gln]
2483 .. 2483 G/A rs182450244 + CDS Nonsynonymous[Val736Met]
2532 .. 2532 G/A rs143304754 + CDS Nonsynonymous[Ser752Asn]
2542 .. 2542 G/A rs145868833 + CDS Synonymous[Leu755Leu]
2573 .. 2573 C/A rs202123283 + CDS Nonsynonymous[His766Asn]
2581 .. 2581 C/T rs143773517 + CDS Synonymous[Asp768Asp]
2593 .. 2593 C/T rs200188905 + CDS Synonymous[Tyr772Tyr]
2600 .. 2600 C/T rs181551438 + CDS Nonsynonymous[Arg775Cys]
2632 .. 2632 T/C rs141314294 + CDS Synonymous[Ala785Ala]
2650 .. 2650 C/T rs116204385 + CDS Synonymous[Leu791Leu]
2651 .. 2651 G/A rs138654170 + CDS Nonsynonymous[Gly792Ser]
2678 .. 2678 G/C rs147412635 + CDS Nonsynonymous[Glu801Gln]
2702 .. 2702 C/T rs143568054 + CDS Nonsynonymous[Arg809Cys]
2703 .. 2703 G/A rs185891286 + CDS Nonsynonymous[Arg809His]
2718 .. 2718 C/T rs147139414 + CDS Nonsynonymous[Ala814Val]
2742 .. 2742 C/G rs121908956 + CDS Nonsynonymous[Pro822Arg]
2743 .. 2743 G/A rs139422989 + CDS Synonymous[Pro822Pro]
2793 .. 2793 G/A rs35297901 + CDS Nonsynonymous[Arg839Gln]
2798 .. 2798 C/A rs146819460 + CDS Nonsynonymous[Pro841Thr]
2800 .. 2800 C/T rs143667543 + CDS Synonymous[Pro841Pro]
2864 .. 2864 C/T rs199543257 + CDS AA-STOP[Gln863*]
2870 .. 2870 A/G rs34671418 - CDS Nonsynonymous[Ile865Val]
2887 .. 2887 G/T rs200494473 + CDS Synonymous[Pro870Pro]
2897 .. 2897 G/T rs201754947 + CDS Nonsynonymous[Val874Leu]
2906 .. 2906 G/A rs143632564 + CDS Nonsynonymous[Ala877Thr]
2909 .. 2909 C/T rs200487610 + CDS Nonsynonymous[Arg878Trp]
2938 .. 2938 G/A rs191337920 + CDS Synonymous[Leu887Leu]
2953 .. 2953 T/A rs2288355 - CDS Synonymous[Ser892Ser]
2958 .. 2958 A/C rs35884879 - CDS Nonsynonymous[Asp894Ala]
2959 .. 2959 T/G rs146153109 + CDS Nonsynonymous[Asp894Glu]
2984 .. 2984 G/A rs200049922 + CDS Nonsynonymous[Glu903Lys]
3016 .. 3016 T/C rs149979662 + CDS Synonymous[Tyr913Tyr]
3038 .. 3038 C/T rs141264366 + CDS Nonsynonymous[Leu921Phe]
3041 .. 3041 G/A rs201622087 + CDS Nonsynonymous[Val922Ile]
3045 .. 3045 G/A rs201178528 + CDS Nonsynonymous[Gly923Glu]
3073 .. 3073 C/T rs200439327 + CDS Synonymous[Tyr932Tyr]
3133 .. 3133 G/A rs148902254 + CDS Synonymous[Ser952Ser]
3139 .. 3139 C/T rs138212696 + CDS Synonymous[Gly954Gly]
3163 .. 3163 C/T rs146006518 + CDS Synonymous[Phe962Phe]
3171 .. 3171 C/T rs150717638 + CDS Nonsynonymous[Pro965Leu]
3172 .. 3172 G/A rs34836829 - CDS Synonymous[Pro965Pro]
3180 .. 3180 C/T rs201209494 + CDS Nonsynonymous[Thr968Ile]
3199 .. 3199 C/T rs143775913 + CDS Synonymous[Asp974Asp]
3244 .. 3244 C/G rs148531939 + CDS Synonymous[Thr989Thr]
3245 .. 3245 C/T rs202218890 + CDS Nonsynonymous[Arg990Trp]
3253 .. 3253 C/T rs192717273 + CDS Synonymous[Pro992Pro]
3254 .. 3254 G/A rs151064013 + CDS Nonsynonymous[Gly993Arg]
3272 .. 3272 A/T rs144636654 + CDS Nonsynonymous[Met999Leu]
3290 .. 3290 G/A rs200422222 + CDS Nonsynonymous[Asp1005Asn]
3298 .. 3298 C/T rs142404822 + CDS Synonymous[Asn1007Asn]
3318 .. 3318 A/C rs34061568 - CDS Nonsynonymous[Lys1014Thr]
3367 .. 3367 G/T rs28937581 + CDS Nonsynonymous[Trp1030Cys]
3392 .. 3392 G/A rs200943384 + CDS Nonsynonymous[Asp1039Asn]
3403 .. 3403 C/G rs36077172 - CDS Synonymous[Gly1042Gly]
3427 .. 3427 C/T rs143475751 + CDS Synonymous[Pro1050Pro]
3435 .. 3435 G/A rs34211915 - CDS Nonsynonymous[Arg1053Gln]
3450 .. 3450 G/C rs142289638 + CDS Nonsynonymous[Trp1058Ser]
3483 .. 3483 G/A rs150877497 + CDS Nonsynonymous[Arg1069Gln]
3486 .. 3486 G/A rs149617331 + CDS Nonsynonymous[Arg1070Gln]
3487 .. 3487 G/A rs200311551 + CDS Synonymous[Arg1070Arg]
3491 .. 3491 C/T rs144598063 + CDS Nonsynonymous[Arg1072Cys]
3492 ^ 3493 -/A rs34551069 + CDS
3507 .. 3507 G/A rs121908958 + CDS Nonsynonymous[Arg1077His]
3528 .. 3528 T/G rs199679773 + CDS Nonsynonymous[Met1084Arg]
3545 .. 3545 C/T rs147886481 + CDS Nonsynonymous[His1090Tyr]
3551 .. 3551 C/G rs202034789 + CDS Nonsynonymous[Gln1092Glu]
3555 .. 3555 C/T rs142193283 + CDS Nonsynonymous[Ala1093Val]
3561 .. 3561 C/T rs200637035 + CDS Nonsynonymous[Ala1095Val]
3564 .. 3564 A/G rs200332119 - CDS Nonsynonymous[Glu1096Gly]
3583 .. 3583 C/T rs150355624 + CDS Synonymous[Tyr1102Tyr]
3584 .. 3584 G/C rs34660230 - CDS Nonsynonymous[Ala1103Pro]
3613 .. 3613 C/T rs144936357 + CDS Synonymous[Leu1112Leu]
3614 .. 3614 G/C rs144599077 + CDS Nonsynonymous[Glu1113Gln]
3619 .. 3619 C/T rs201477760 + CDS Synonymous[Tyr1114Tyr]
3648 .. 3648 G/C rs111488441 + CDS Nonsynonymous[Arg1124Pro]
3653 .. 3653 C/T rs141536854 + CDS Nonsynonymous[Arg1126Cys]
3656 .. 3656 C/T rs148171293 + CDS Nonsynonymous[Arg1127Cys]
3657 .. 3657 G/A rs59915619 + CDS Nonsynonymous[Arg1127His]
3659 .. 3659 C/T rs147483765 + CDS Nonsynonymous[Arg1128Cys]
3682 .. 3682 G/A rs149986783 + CDS Synonymous[Thr1135Thr]
3684 .. 3684 G/A rs148489131 + CDS Nonsynonymous[Gly1136Glu]
3713 .. 3713 G/A rs200334333 + CDS Nonsynonymous[Ala1146Thr]
3722 .. 3722 G/A rs202000264 + CDS Nonsynonymous[Gly1149Ser]
3724 .. 3724 C/T rs146498307 + CDS Synonymous[Gly1149Gly]
3725 .. 3725 G/A rs144634077 + CDS Nonsynonymous[Val1150Met]
3758 .. 3758 G/A rs148925399 + CDS Nonsynonymous[Val1161Ile]
3792 .. 3792 C/T rs140058659 + CDS Nonsynonymous[Thr1172Met]
3817 .. 3817 G/A rs138317526 + CDS Synonymous[Gly1180Gly]
3821 .. 3821 C/T rs200719174 + CDS Nonsynonymous[Arg1182Cys]
3857 .. 3857 G/A rs139194093 + CDS Nonsynonymous[Asp1194Asn]
3868 .. 3868 G/A rs201319864 + CDS Synonymous[Ala1197Ala]
3904 .. 3904 C/T rs79899601 + CDS Synonymous[Ile1209Ile]
3917 .. 3917 C/T rs150623923 + CDS Nonsynonymous[His1214Tyr]
3923 .. 3923 A/G rs139194366 + CDS Nonsynonymous[Ser1216Gly]
3976 .. 3976 G/A rs139897804 + CDS Synonymous[Thr1233Thr]
3988 .. 3988 C/T rs143393575 + CDS Synonymous[Tyr1237Tyr]
3994 .. 3994 C/G/T rs148858485 + CDS
4011 .. 4011 C/T rs150942486 + CDS Nonsynonymous[Pro1245Leu]
4012 .. 4012 G/A rs139364929 + CDS Synonymous[Pro1245Pro]
4033 .. 4033 G/A rs150444588 + CDS Synonymous[Pro1252Pro]
4062 .. 4062 A/G rs79608837 + CDS Nonsynonymous[His1262Arg]
4072 .. 4072 T/C rs141720146 + CDS Synonymous[Tyr1265Tyr]
4095 .. 4095 G/A rs2303603 + CDS Nonsynonymous[Arg1273His]
4100 .. 4100 A/G rs200942650 + CDS Nonsynonymous[Ile1275Val]
4130 .. 4130 C/T rs146970014 + CDS Nonsynonymous[Arg1285Trp]
4141 .. 4141 G/C rs141420226 + CDS Nonsynonymous[Trp1288Cys]
4152 .. 4152 C/T rs202013788 + CDS Nonsynonymous[Thr1292Met]
4158 .. 4158 G/C rs200330006 + CDS Nonsynonymous[Gly1294Ala]
4168 .. 4168 G/A rs139983909 + CDS Synonymous[Pro1297Pro]
4223 .. 4223 C/T rs202061751 + CDS Nonsynonymous[His1316Tyr]
4262 .. 4262 A/G rs121908954 + CDS Nonsynonymous[Ile1329Val]
4270 .. 4270 T/A rs201998440 + CDS Nonsynonymous[Asp1331Glu]
4284 .. 4284 C/A rs116426399 + CDS Nonsynonymous[Thr1336Lys]
4286 .. 4286 G/A rs149023297 + CDS Nonsynonymous[Asp1337Asn]
4321 .. 4321 C/T rs201966225 + CDS Synonymous[Asn1348Asn]
4337 .. 4337 C/G rs147950418 + CDS Nonsynonymous[Gln1354Glu]
4342 .. 4342 C/T rs11558179 - CDS Synonymous[Asn1355Asn]
4343 .. 4343 A/G rs145401010 + CDS Nonsynonymous[Ile1356Val]
4353 .. 4353 C/T rs201476613 + CDS Nonsynonymous[Ala1359Val]
4362 .. 4362 G/T rs61742872 + CDS Nonsynonymous[Arg1362Leu]
4366 .. 4366 C/T rs138751942 + CDS Synonymous[Thr1363Thr]
4370 .. 4370 A/G rs146242836 + CDS Nonsynonymous[Ile1365Val]
4378 .. 4378 C/A rs2303606 + CDS Synonymous[Ile1367Ile]
4394 .. 4394 C/T rs199870606 + CDS Nonsynonymous[Arg1373Trp]
4422 .. 4422 A/G rs139529811 + CDS Nonsynonymous[Asn1382Ser]
4438 .. 4438 C/T rs2303607 + CDS Synonymous[Ser1387Ser]
4459 .. 4459 C/T rs145412880 + CDS Synonymous[Gly1394Gly]
4464 .. 4464 C/T rs149182447 + CDS Nonsynonymous[Thr1396Met]
4568 .. 4568 C/G/T rs151268930 + CDS
4569 .. 4569 C/G rs138268837 + CDS Nonsynonymous[Pro1431Arg]
4570 .. 4570 C/T rs142769942 + CDS Synonymous[Pro1431Pro]
4595 .. 4595 C/T rs138097846 + CDS Nonsynonymous[Arg1440Cys]
4657 .. 4657 G/A rs144072850 + CDS Synonymous[Leu1460Leu]
4665 .. 4665 C/A rs142776870 + CDS Nonsynonymous[Pro1463His]
4671 .. 4671 C/T rs139411595 + CDS Nonsynonymous[Ser1465Leu]
4688 .. 4688 C/T rs151109021 + CDS Nonsynonymous[Pro1471Ser]
4693 .. 4693 G/A rs76576806 + CDS Synonymous[Gln1472Gln]
4705 .. 4705 C/T rs61746816 + CDS Synonymous[Asp1476Asp]
4744 .. 4744 C/T rs145690047 + CDS Synonymous[Ile1489Ile]
4746 .. 4746 A/G rs61738567 + CDS Nonsynonymous[Asp1490Gly]
4795 .. 4795 C/T rs148055736 + CDS Synonymous[Ile1506Ile]
4850 .. 4850 T/C rs150139276 + CDS Nonsynonymous[Tyr1525His]
4861 .. 4861 G/T rs182185801 + CDS Nonsynonymous[Lys1528Asn]
4872 .. 4872 C/A rs200809348 + CDS Nonsynonymous[Thr1532Asn]
4874 .. 4874 C/T rs7573406 + CDS Synonymous[Leu1533Leu]
4879 .. 4879 G/A rs199861501 + CDS Synonymous[Lys1534Lys]
4880 .. 4880 G/A rs143895253 + CDS Nonsynonymous[Val1535Ile]
4882 .. 4882 C/G rs142483266 + CDS Synonymous[Val1535Val]
4926 .. 4926 C/A rs201226634 + CDS Nonsynonymous[Ser1550Tyr]
4947 .. 4947 A/C rs76086153 + CDS Nonsynonymous[Lys1557Thr]
4956 .. 4956 G/A rs191383034 + CDS Nonsynonymous[Arg1560Gln]
4965 .. 4965 C/T rs144422408 + CDS Nonsynonymous[Thr1563Met]
5033 .. 5033 C/T rs149768871 + CDS Nonsynonymous[Pro1586Ser]
5045 .. 5045 G/A rs146213322 + CDS Nonsynonymous[Ala1590Thr]
5084 .. 5084 G/A rs143163327 + CDS Nonsynonymous[Ala1603Thr]
5101 .. 5101 G/A rs62145939 + CDS Synonymous[Glu1608Glu]
5112 .. 5112 G/A rs185596534 + CDS Nonsynonymous[Arg1612His]
5164 .. 5164 G/T rs141704244 + CDS Nonsynonymous[Lys1629Asn]
5189 .. 5189 A/G rs138357301 + CDS Nonsynonymous[Ile1638Val]
5190 .. 5190 T/C rs146384562 + CDS Nonsynonymous[Ile1638Thr]
5227 .. 5227 C/A rs113744167 + CDS Synonymous[Ile1650Ile]
5235 .. 5235 C/T rs144383140 + CDS Nonsynonymous[Thr1653Met]
5236 .. 5236 G/T rs142301132 + CDS Synonymous[Thr1653Thr]
5246 .. 5246 G/A rs147056383 + CDS Nonsynonymous[Val1657Ile]
5263 .. 5263 C/T rs151276652 + CDS Synonymous[Phe1662Phe]
5275 .. 5275 C/T rs149989207 + CDS Synonymous[Cys1666Cys]
5311 .. 5311 C/A rs141476432 + CDS Synonymous[Leu1678Leu]
5347 .. 5347 C/T rs149087116 + CDS Synonymous[Ile1690Ile]
5355 .. 5355 C/T rs143059463 + CDS Nonsynonymous[Thr1693Met]
5396 .. 5396 G/T rs141137410 + CDS Nonsynonymous[Ala1707Ser]
5400 .. 5400 G/A rs138472236 + CDS Nonsynonymous[Arg1708His]
5433 .. 5433 G/C rs146153532 + CDS Nonsynonymous[Gly1719Ala]
5469 .. 5469 A/T rs149408006 + CDS Nonsynonymous[Gln1731Leu]
5474 .. 5474 C/G rs11558178 - CDS Nonsynonymous[Leu1733Val]
5489 .. 5489 C/G rs199827126 + CDS Nonsynonymous[Gln1738Glu]
5519 .. 5519 C/T rs148541407 + CDS Nonsynonymous[Arg1748Trp]
5529 .. 5529 G/A rs147678255 + CDS Nonsynonymous[Arg1751His]
5571 .. 5571 A/G rs121908961 + CDS Nonsynonymous[Glu1765Gly]
5586 .. 5586 C/A rs145272777 + CDS Nonsynonymous[Pro1770Gln]
5614 .. 5614 G/A rs140812535 + CDS Synonymous[Glu1779Glu]
5673 .. 5673 G/A rs148860301 + CDS Nonsynonymous[Arg1799Gln]
5677 .. 5677 C/T rs137855767 + CDS Synonymous[Pro1800Pro]
5686 .. 5686 C/T rs200879908 + CDS Synonymous[Ser1803Ser]
5731 .. 5731 C/T rs145143725 + CDS Synonymous[Val1818Val]
5741 .. 5741 C/T rs145832952 + CDS Nonsynonymous[Pro1822Ser]
5751 .. 5751 T/C rs148382335 + CDS Nonsynonymous[Leu1825Pro]
5756 .. 5756 C/T rs139879284 + CDS Nonsynonymous[Arg1827Trp]
5862 .. 5862 C/T rs199649417 + CDS Nonsynonymous[Thr1862Met]
5867 .. 5867 G/A rs201592500 + CDS Nonsynonymous[Glu1864Lys]
5883 .. 5883 T/C rs191052325 + CDS Nonsynonymous[Ile1869Thr]
5940 .. 5940 A/G rs199601326 + CDS Nonsynonymous[His1888Arg]
5946 .. 5946 G/A rs143939123 + CDS Nonsynonymous[Arg1890His]
5996 .. 5996 G/A rs115013641 + CDS Nonsynonymous[Asp1907Asn]
6083 .. 6083 C/T rs121908959 + CDS AA-STOP[Arg1936*]
6161 .. 6161 C/T rs144116735 + CDS Nonsynonymous[Arg1962Cys]
6198 .. 6198 C/G rs142160134 + CDS Nonsynonymous[Ser1974Cys]
6199 .. 6199 C/G rs140341988 + CDS Synonymous[Ser1974Ser]
6229 .. 6229 A/C/T rs17718530 + CDS
6252 .. 6252 A/G rs11558176 - CDS Nonsynonymous[Glu1992Gly]
6288 .. 6288 C/T rs201784424 + CDS Nonsynonymous[Ala2004Val]
6316 .. 6316 G/A rs138936064 + CDS Synonymous[Ala2013Ala]
6335 .. 6335 T/C rs188223743 + CDS Synonymous[Leu2020Leu]
6353 .. 6353 A/C rs201890095 + CDS Nonsynonymous[Ser2026Arg]
6368 .. 6368 C/T rs149357145 + CDS Nonsynonymous[Arg2031Trp]
6369 .. 6369 G/A rs115407852 + CDS Nonsynonymous[Arg2031Gln]
6386 .. 6386 C/T rs200921075 + CDS Nonsynonymous[Arg2037Trp]
6407 .. 6407 C/A rs11558177 - CDS Nonsynonymous[Pro2044Thr]
6427 .. 6427 G/A rs143762717 + CDS Synonymous[Arg2050Arg]
6433 .. 6433 C/T rs147263499 + CDS Synonymous[Pro2052Pro]
6442 .. 6442 C/A rs200994941 + CDS Synonymous[Ser2055Ser]
6491 .. 6491 C/T rs200990851 + CDS Nonsynonymous[Arg2072Trp]
6494 .. 6494 C/T rs121908955 + CDS Nonsynonymous[Arg2073Cys]
6500 .. 6500 C/T rs185617318 + CDS Nonsynonymous[Arg2075Trp]
6509 .. 6509 A/G rs150834671 + CDS Nonsynonymous[Ile2078Val]
6536 .. 6536 C/T rs201725164 + CDS Synonymous[Leu2087Leu]
6573 .. 6573 C/T rs149732545 + CDS Nonsynonymous[Pro2099Leu]
6574 .. 6574 G/A rs139267208 + CDS Synonymous[Pro2099Pro]
6640 .. 6640 C/T rs199573560 + 3'UTR
6666 .. 6666 G/A rs114777968 + 3'UTR
6708 .. 6708 C/A rs1802426 + 3'UTR
6720 .. 6720 T/A rs11903223 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
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 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