H-InvDB x AHG DB
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H-Invitational ID: HIT000484993 Accession number: EU515157 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]
740 .. 740 G/A rs200970855 + CDS Nonsynonymous[Gly155Arg]
746 .. 746 G/A rs151054827 + CDS Nonsynonymous[Glu157Lys]
754 .. 754 C/T rs201335551 + CDS Synonymous[Asp159Asp]
769 .. 769 A/G rs141002437 + CDS Synonymous[Gly164Gly]
773 .. 773 A/C rs142265349 + CDS Nonsynonymous[Thr166Pro]
786 .. 786 C/A rs34999029 - CDS Nonsynonymous[Ala170Glu]
809 .. 809 G/A rs143562525 + CDS Nonsynonymous[Gly178Arg]
817 .. 817 G/T rs185711021 + CDS Synonymous[Pro180Pro]
829 .. 829 C/T rs201607397 + CDS Synonymous[Thr184Thr]
842 .. 842 C/G rs13407355 + CDS Nonsynonymous[Leu189Val]
847 .. 847 T/C rs35392229 - CDS Synonymous[Pro190Pro]
858 .. 858 C/A rs201980470 + CDS Nonsynonymous[Pro194Gln]
863 .. 863 C/A rs146382803 + CDS Nonsynonymous[His196Asn]
899 .. 899 A/G rs150029218 + CDS Nonsynonymous[Thr208Ala]
915 .. 915 T/C rs148739795 + CDS Nonsynonymous[Leu213Pro]
927 .. 927 C/T rs147876220 + CDS Nonsynonymous[Pro217Leu]
947 .. 947 G/A rs145360241 + CDS Nonsynonymous[Val224Ile]
953 .. 953 G/A rs150345121 + CDS Nonsynonymous[Val226Met]
955 .. 955 G/A rs201797348 + CDS Synonymous[Val226Val]
958 .. 958 C/T rs138054675 + CDS Synonymous[Ile227Ile]
975 .. 975 C/T rs143053635 + CDS Nonsynonymous[Pro233Leu]
978 .. 978 G/A rs141497053 + CDS Nonsynonymous[Gly234Glu]
979 .. 979 G/A rs138466537 + CDS Synonymous[Gly234Gly]
984 .. 984 A/C rs150917600 + CDS Nonsynonymous[Asn236Thr]
1034 .. 1034 C/T rs149827237 + CDS Nonsynonymous[Arg253Trp]
1035 .. 1035 G/A rs140002194 + CDS Nonsynonymous[Arg253Gln]
1066 .. 1066 T/G rs201550600 + CDS Nonsynonymous[Asn263Lys]
1117 .. 1117 G/T rs111581279 + CDS Nonsynonymous[Glu280Asp]
1126 .. 1126 T/C rs147675576 + CDS Synonymous[Phe283Phe]
1159 .. 1159 A/T rs112007817 + CDS Synonymous[Thr294Thr]
1171 .. 1171 C/T rs140809078 + CDS Synonymous[Leu298Leu]
1172 .. 1172 G/A/T rs121908963 + CDS
1181 .. 1181 C/T rs184771575 + CDS Nonsynonymous[Arg302Trp]
1189 .. 1189 C/T rs146687581 + CDS Synonymous[Asp304Asp]
1219 .. 1219 C/T rs36122356 - CDS Synonymous[His314His]
1246 .. 1246 C/G rs143370670 + CDS Synonymous[Leu323Leu]
1326 .. 1326 C/T rs115279465 + CDS Nonsynonymous[Ala350Val]
1330 .. 1330 T/G rs199955501 + CDS Synonymous[Pro351Pro]
1397 .. 1397 G/C rs150724610 + CDS Nonsynonymous[Val374Leu]
1430 .. 1430 G/A rs200281572 + CDS Nonsynonymous[Val385Ile]
1462 .. 1462 C/T rs147244033 + CDS Synonymous[Asp395Asp]
1469 .. 1469 G/A rs144202114 + CDS Nonsynonymous[Val398Met]
1492 .. 1492 C/T rs148697028 + CDS Synonymous[Ile405Ile]
1510 .. 1510 C/A rs143355224 + CDS Nonsynonymous[Asn411Lys]
1551 .. 1551 C/T rs146588926 + CDS Nonsynonymous[Ala425Val]
1552 .. 1552 G/A/C rs140667960 + CDS
1588 .. 1588 G/A/T rs150093305 + CDS
1628 .. 1628 A/G rs141818764 + CDS Nonsynonymous[Met451Val]
1630 .. 1630 G/A rs146064054 + CDS Nonsynonymous[Met451Ile]
1639 .. 1639 C/T rs200803090 + CDS Synonymous[Ser454Ser]
1645 .. 1645 C/T rs202044973 + CDS Synonymous[Cys456Cys]
1646 .. 1646 G/A rs61740288 + CDS Nonsynonymous[Glu457Lys]
1662 .. 1662 G/A rs199879861 + CDS Nonsynonymous[Arg462His]
1675 .. 1675 G/A rs141400095 + CDS AA-STOP[Trp466*]
1679 .. 1679 C/T rs185119682 + CDS Nonsynonymous[Arg468Cys]
1699 .. 1699 C/T rs34387018 - CDS Synonymous[Ile474Ile]
1725 .. 1725 C/T rs139258703 + CDS Nonsynonymous[Ser483Leu]
1785 .. 1785 C/T rs144931729 + CDS Nonsynonymous[Ser503Leu]
1789 .. 1789 A/T rs149066183 + CDS Nonsynonymous[Lys504Asn]
1832 .. 1832 G/A rs121908962 + CDS Nonsynonymous[Gly519Arg]
1849 .. 1849 C/T rs139495331 + CDS Synonymous[Asn524Asn]
1891 .. 1891 C/A rs180970066 + CDS Synonymous[Pro538Pro]
1897 .. 1897 A/G rs147101870 + CDS Synonymous[Thr540Thr]
1907 .. 1907 A/C rs201443353 + CDS Nonsynonymous[Thr544Pro]
1916 .. 1916 G/A rs200236226 + CDS Nonsynonymous[Gly547Arg]
1944 .. 1944 T/C rs200916654 + CDS Nonsynonymous[Leu556Pro]
1999 .. 1999 C/T rs199554105 + CDS Synonymous[Asp574Asp]
2007 .. 2007 C/T rs201515915 + CDS Nonsynonymous[Ala577Val]
2008 .. 2008 G/A rs35984374 - CDS Synonymous[Ala577Ala]
2021 .. 2021 C/T rs149386446 + CDS Nonsynonymous[Arg582Trp]
2032 .. 2032 G/T rs144675204 + CDS Nonsynonymous[Lys585Asn]
2047 ^ 2048 -/C rs34644852 + CDS
2064 .. 2064 C/T rs146261069 + CDS Nonsynonymous[Ala596Val]
2090 .. 2090 C/T rs121908953 + CDS AA-STOP[Gln605*]
2104 .. 2104 T/C rs2303596 + CDS Synonymous[Asp609Asp]
2129 .. 2129 G/A rs201049092 + CDS Nonsynonymous[Gly618Arg]
2137 .. 2137 C/T rs35721373 - CDS Synonymous[Tyr620Tyr]
2143 .. 2143 C/G rs141080184 + CDS Nonsynonymous[Asn622Lys]
2146 .. 2146 G/A rs147738382 + CDS Synonymous[Lys623Lys]
2150 .. 2150 G/A/T rs121908960 + CDS
2154 .. 2154 T/C rs141867897 + CDS Nonsynonymous[Met626Thr]
2167 .. 2167 G/A rs115849497 + CDS Synonymous[Pro630Pro]
2193 .. 2193 G/A rs150417363 + CDS Nonsynonymous[Arg639His]
2207 .. 2207 G/A rs200195517 + CDS Nonsynonymous[Gly644Arg]
2239 .. 2239 C/T rs199565036 + CDS Synonymous[Asn654Asn]
2240 .. 2240 G/A rs200611218 + CDS Nonsynonymous[Val655Met]
2243 .. 2243 A/G rs139754493 + CDS Nonsynonymous[Lys656Glu]
2257 .. 2257 G/A rs138111360 + CDS Synonymous[Val660Val]
2268 .. 2268 A/C rs200380100 + CDS Nonsynonymous[Tyr664Ser]
2282 .. 2282 A/G rs113450735 + CDS Nonsynonymous[Ser669Gly]
2311 .. 2311 G/T rs200541431 + CDS Synonymous[Leu678Leu]
2327 .. 2327 C/T rs148652047 + CDS Nonsynonymous[Arg684Trp]
2330 .. 2330 C/G rs74423119 + CDS Nonsynonymous[Leu685Val]
2370 .. 2370 C/T rs145007061 + CDS Nonsynonymous[Ala698Val]
2371 .. 2371 G/A rs201239189 + CDS Synonymous[Ala698Ala]
2374 .. 2374 G/A rs149864346 + CDS Synonymous[Gln699Gln]
2390 .. 2390 G/A rs182450244 + CDS Nonsynonymous[Val705Met]
2439 .. 2439 G/A rs143304754 + CDS Nonsynonymous[Ser721Asn]
2449 .. 2449 G/A rs145868833 + CDS Synonymous[Leu724Leu]
2480 .. 2480 C/A rs202123283 + CDS Nonsynonymous[His735Asn]
2488 .. 2488 C/T rs143773517 + CDS Synonymous[Asp737Asp]
2500 .. 2500 C/T rs200188905 + CDS Synonymous[Tyr741Tyr]
2507 .. 2507 C/T rs181551438 + CDS Nonsynonymous[Arg744Cys]
2539 .. 2539 T/C rs141314294 + CDS Synonymous[Ala754Ala]
2557 .. 2557 C/T rs116204385 + CDS Synonymous[Leu760Leu]
2558 .. 2558 G/A rs138654170 + CDS Nonsynonymous[Gly761Ser]
2585 .. 2585 G/C rs147412635 + CDS Nonsynonymous[Glu770Gln]
2609 .. 2609 C/T rs143568054 + CDS Nonsynonymous[Arg778Cys]
2610 .. 2610 G/A rs185891286 + CDS Nonsynonymous[Arg778His]
2625 .. 2625 C/T rs147139414 + CDS Nonsynonymous[Ala783Val]
2649 .. 2649 C/G rs121908956 + CDS Nonsynonymous[Pro791Arg]
2650 .. 2650 G/A rs139422989 + CDS Synonymous[Pro791Pro]
2700 .. 2700 G/A rs35297901 + CDS Nonsynonymous[Arg808Gln]
2705 .. 2705 C/A rs146819460 + CDS Nonsynonymous[Pro810Thr]
2707 .. 2707 C/T rs143667543 + CDS Synonymous[Pro810Pro]
2771 .. 2771 C/T rs199543257 + CDS AA-STOP[Gln832*]
2777 .. 2777 A/G rs34671418 - CDS Nonsynonymous[Ile834Val]
2794 .. 2794 G/T rs200494473 + CDS Synonymous[Pro839Pro]
2804 .. 2804 G/T rs201754947 + CDS Nonsynonymous[Val843Leu]
2813 .. 2813 G/A rs143632564 + CDS Nonsynonymous[Ala846Thr]
2816 .. 2816 C/T rs200487610 + CDS Nonsynonymous[Arg847Trp]
2845 .. 2845 G/A rs191337920 + CDS Synonymous[Leu856Leu]
2860 .. 2860 T/A rs2288355 - CDS Synonymous[Ser861Ser]
2865 .. 2865 A/C rs35884879 - CDS Nonsynonymous[Asp863Ala]
2866 .. 2866 T/G rs146153109 + CDS Nonsynonymous[Asp863Glu]
2891 .. 2891 G/A rs200049922 + CDS Nonsynonymous[Glu872Lys]
2923 .. 2923 T/C rs149979662 + CDS Synonymous[Tyr882Tyr]
2945 .. 2945 C/T rs141264366 + CDS Nonsynonymous[Leu890Phe]
2948 .. 2948 G/A rs201622087 + CDS Nonsynonymous[Val891Ile]
2952 .. 2952 G/A rs201178528 + CDS Nonsynonymous[Gly892Glu]
2980 .. 2980 C/T rs200439327 + CDS Synonymous[Tyr901Tyr]
3040 .. 3040 G/A rs148902254 + CDS Synonymous[Ser921Ser]
3046 .. 3046 C/T rs138212696 + CDS Synonymous[Gly923Gly]
3070 .. 3070 C/T rs146006518 + CDS Synonymous[Phe931Phe]
3078 .. 3078 C/T rs150717638 + CDS Nonsynonymous[Pro934Leu]
3079 .. 3079 G/A rs34836829 - CDS Synonymous[Pro934Pro]
3087 .. 3087 C/T rs201209494 + CDS Nonsynonymous[Thr937Ile]
3106 .. 3106 C/T rs143775913 + CDS Synonymous[Asp943Asp]
3151 .. 3151 C/G rs148531939 + CDS Synonymous[Thr958Thr]
3152 .. 3152 C/T rs202218890 + CDS Nonsynonymous[Arg959Trp]
3160 .. 3160 C/T rs192717273 + CDS Synonymous[Pro961Pro]
3161 .. 3161 G/A rs151064013 + CDS Nonsynonymous[Gly962Arg]
3179 .. 3179 A/T rs144636654 + CDS Nonsynonymous[Met968Leu]
3197 .. 3197 G/A rs200422222 + CDS Nonsynonymous[Asp974Asn]
3205 .. 3205 C/T rs142404822 + CDS Synonymous[Asn976Asn]
3225 .. 3225 A/C rs34061568 - CDS Nonsynonymous[Lys983Thr]
3274 .. 3274 G/T rs28937581 + CDS Nonsynonymous[Trp999Cys]
3299 .. 3299 G/A rs200943384 + CDS Nonsynonymous[Asp1008Asn]
3310 .. 3310 C/G rs36077172 - CDS Synonymous[Gly1011Gly]
3334 .. 3334 C/T rs143475751 + CDS Synonymous[Pro1019Pro]
3342 .. 3342 G/A rs34211915 - CDS Nonsynonymous[Arg1022Gln]
3357 .. 3357 G/C rs142289638 + CDS Nonsynonymous[Trp1027Ser]
3390 .. 3390 G/A rs150877497 + CDS Nonsynonymous[Arg1038Gln]
3393 .. 3393 G/A rs149617331 + CDS Nonsynonymous[Arg1039Gln]
3394 .. 3394 G/A rs200311551 + CDS Synonymous[Arg1039Arg]
3398 .. 3398 C/T rs144598063 + CDS Nonsynonymous[Arg1041Cys]
3399 ^ 3400 -/A rs34551069 + CDS
3414 .. 3414 G/A rs121908958 + CDS Nonsynonymous[Arg1046His]
3435 .. 3435 T/G rs199679773 + CDS Nonsynonymous[Met1053Arg]
3452 .. 3452 C/T rs147886481 + CDS Nonsynonymous[His1059Tyr]
3458 .. 3458 C/G rs202034789 + CDS Nonsynonymous[Gln1061Glu]
3462 .. 3462 C/T rs142193283 + CDS Nonsynonymous[Ala1062Val]
3468 .. 3468 C/T rs200637035 + CDS Nonsynonymous[Ala1064Val]
3471 .. 3471 A/G rs200332119 - CDS Nonsynonymous[Glu1065Gly]
3490 .. 3490 C/T rs150355624 + CDS Synonymous[Tyr1071Tyr]
3491 .. 3491 G/C rs34660230 - CDS Nonsynonymous[Ala1072Pro]
3520 .. 3520 C/T rs144936357 + CDS Synonymous[Leu1081Leu]
3521 .. 3521 G/C rs144599077 + CDS Nonsynonymous[Glu1082Gln]
3526 .. 3526 C/T rs201477760 + CDS Synonymous[Tyr1083Tyr]
3555 .. 3555 G/C rs111488441 + CDS Nonsynonymous[Arg1093Pro]
3560 .. 3560 C/T rs141536854 + CDS Nonsynonymous[Arg1095Cys]
3563 .. 3563 C/T rs148171293 + CDS Nonsynonymous[Arg1096Cys]
3564 .. 3564 G/A rs59915619 + CDS Nonsynonymous[Arg1096His]
3566 .. 3566 C/T rs147483765 + CDS Nonsynonymous[Arg1097Cys]
3589 .. 3589 G/A rs149986783 + CDS Synonymous[Thr1104Thr]
3591 .. 3591 G/A rs148489131 + CDS Nonsynonymous[Gly1105Glu]
3620 .. 3620 G/A rs200334333 + CDS Nonsynonymous[Ala1115Thr]
3629 .. 3629 G/A rs202000264 + CDS Nonsynonymous[Gly1118Ser]
3631 .. 3631 C/T rs146498307 + CDS Synonymous[Gly1118Gly]
3632 .. 3632 G/A rs144634077 + CDS Nonsynonymous[Val1119Met]
3665 .. 3665 G/A rs148925399 + CDS Nonsynonymous[Val1130Ile]
3699 .. 3699 C/T rs140058659 + CDS Nonsynonymous[Thr1141Met]
3724 .. 3724 G/A rs138317526 + CDS Synonymous[Gly1149Gly]
3728 .. 3728 C/T rs200719174 + CDS Nonsynonymous[Arg1151Cys]
3764 .. 3764 G/A rs139194093 + CDS Nonsynonymous[Asp1163Asn]
3775 .. 3775 G/A rs201319864 + CDS Synonymous[Ala1166Ala]
3811 .. 3811 C/T rs79899601 + CDS Synonymous[Ile1178Ile]
3824 .. 3824 C/T rs150623923 + CDS Nonsynonymous[His1183Tyr]
3830 .. 3830 A/G rs139194366 + CDS Nonsynonymous[Ser1185Gly]
3883 .. 3883 G/A rs139897804 + CDS Synonymous[Thr1202Thr]
3895 .. 3895 C/T rs143393575 + CDS Synonymous[Tyr1206Tyr]
3901 .. 3901 C/G/T rs148858485 + CDS
3918 .. 3918 C/T rs150942486 + CDS Nonsynonymous[Pro1214Leu]
3919 .. 3919 G/A rs139364929 + CDS Synonymous[Pro1214Pro]
3940 .. 3940 G/A rs150444588 + CDS Synonymous[Pro1221Pro]
3969 .. 3969 A/G rs79608837 + CDS Nonsynonymous[His1231Arg]
3979 .. 3979 T/C rs141720146 + CDS Synonymous[Tyr1234Tyr]
4002 .. 4002 G/A rs2303603 + CDS Nonsynonymous[Arg1242His]
4007 .. 4007 A/G rs200942650 + CDS Nonsynonymous[Ile1244Val]
4037 .. 4037 C/T rs146970014 + CDS Nonsynonymous[Arg1254Trp]
4048 .. 4048 G/C rs141420226 + CDS Nonsynonymous[Trp1257Cys]
4059 .. 4059 C/T rs202013788 + CDS Nonsynonymous[Thr1261Met]
4065 .. 4065 G/C rs200330006 + CDS Nonsynonymous[Gly1263Ala]
4075 .. 4075 G/A rs139983909 + CDS Synonymous[Pro1266Pro]
4130 .. 4130 C/T rs202061751 + CDS Nonsynonymous[His1285Tyr]
4169 .. 4169 A/G rs121908954 + CDS Nonsynonymous[Ile1298Val]
4177 .. 4177 T/A rs201998440 + CDS Nonsynonymous[Asp1300Glu]
4191 .. 4191 C/A rs116426399 + CDS Nonsynonymous[Thr1305Lys]
4193 .. 4193 G/A rs149023297 + CDS Nonsynonymous[Asp1306Asn]
4228 .. 4228 C/T rs201966225 + CDS Synonymous[Asn1317Asn]
4244 .. 4244 C/G rs147950418 + CDS Nonsynonymous[Gln1323Glu]
4249 .. 4249 C/T rs11558179 - CDS Synonymous[Asn1324Asn]
4250 .. 4250 A/G rs145401010 + CDS Nonsynonymous[Ile1325Val]
4260 .. 4260 C/T rs201476613 + CDS Nonsynonymous[Ala1328Val]
4269 .. 4269 G/T rs61742872 + CDS Nonsynonymous[Arg1331Leu]
4273 .. 4273 C/T rs138751942 + CDS Synonymous[Thr1332Thr]
4277 .. 4277 A/G rs146242836 + CDS Nonsynonymous[Ile1334Val]
4285 .. 4285 C/A rs2303606 + CDS Synonymous[Ile1336Ile]
4301 .. 4301 C/T rs199870606 + CDS Nonsynonymous[Arg1342Trp]
4329 .. 4329 A/G rs139529811 + CDS Nonsynonymous[Asn1351Ser]
4345 .. 4345 C/T rs2303607 + CDS Synonymous[Ser1356Ser]
4366 .. 4366 C/T rs145412880 + CDS Synonymous[Gly1363Gly]
4371 .. 4371 C/T rs149182447 + CDS Nonsynonymous[Thr1365Met]
4475 .. 4475 C/G/T rs151268930 + CDS
4476 .. 4476 C/G rs138268837 + CDS Nonsynonymous[Pro1400Arg]
4477 .. 4477 C/T rs142769942 + CDS Synonymous[Pro1400Pro]
4502 .. 4502 C/T rs138097846 + CDS Nonsynonymous[Arg1409Cys]
4564 .. 4564 G/A rs144072850 + CDS Synonymous[Leu1429Leu]
4572 .. 4572 C/A rs142776870 + CDS Nonsynonymous[Pro1432His]
4578 .. 4578 C/T rs139411595 + CDS Nonsynonymous[Ser1434Leu]
4595 .. 4595 C/T rs151109021 + CDS Nonsynonymous[Pro1440Ser]
4600 .. 4600 G/A rs76576806 + CDS Synonymous[Gln1441Gln]
4612 .. 4612 C/T rs61746816 + CDS Synonymous[Asp1445Asp]
4651 .. 4651 C/T rs145690047 + CDS Synonymous[Ile1458Ile]
4653 .. 4653 A/G rs61738567 + CDS Nonsynonymous[Asp1459Gly]
4765 .. 4765 C/T rs148055736 + CDS Synonymous[Ile1496Ile]
4820 .. 4820 T/C rs150139276 + CDS Nonsynonymous[Tyr1515His]
4831 .. 4831 G/T rs182185801 + CDS Nonsynonymous[Lys1518Asn]
4842 .. 4842 C/A rs200809348 + CDS Nonsynonymous[Thr1522Asn]
4844 .. 4844 C/T rs7573406 + CDS Synonymous[Leu1523Leu]
4849 .. 4849 G/A rs199861501 + CDS Synonymous[Lys1524Lys]
4850 .. 4850 G/A rs143895253 + CDS Nonsynonymous[Val1525Ile]
4852 .. 4852 C/G rs142483266 + CDS Synonymous[Val1525Val]
4896 .. 4896 C/A rs201226634 + CDS Nonsynonymous[Ser1540Tyr]
4917 .. 4917 A/C rs76086153 + CDS Nonsynonymous[Lys1547Thr]
4926 .. 4926 G/A rs191383034 + CDS Nonsynonymous[Arg1550Gln]
4935 .. 4935 C/T rs144422408 + CDS Nonsynonymous[Thr1553Met]
5003 .. 5003 C/T rs149768871 + CDS Nonsynonymous[Pro1576Ser]
5015 .. 5015 G/A rs146213322 + CDS Nonsynonymous[Ala1580Thr]
5054 .. 5054 G/A rs143163327 + CDS Nonsynonymous[Ala1593Thr]
5071 .. 5071 G/A rs62145939 + CDS Synonymous[Glu1598Glu]
5082 .. 5082 G/A rs185596534 + CDS Nonsynonymous[Arg1602His]
5134 .. 5134 G/T rs141704244 + CDS Nonsynonymous[Lys1619Asn]
5159 .. 5159 A/G rs138357301 + CDS Nonsynonymous[Ile1628Val]
5160 .. 5160 T/C rs146384562 + CDS Nonsynonymous[Ile1628Thr]
5197 .. 5197 C/A rs113744167 + CDS Synonymous[Ile1640Ile]
5205 .. 5205 C/T rs144383140 + CDS Nonsynonymous[Thr1643Met]
5206 .. 5206 G/T rs142301132 + CDS Synonymous[Thr1643Thr]
5216 .. 5216 G/A rs147056383 + CDS Nonsynonymous[Val1647Ile]
5233 .. 5233 C/T rs151276652 + CDS Synonymous[Phe1652Phe]
5245 .. 5245 C/T rs149989207 + CDS Synonymous[Cys1656Cys]
5281 .. 5281 C/A rs141476432 + CDS Synonymous[Leu1668Leu]
5317 .. 5317 C/T rs149087116 + CDS Synonymous[Ile1680Ile]
5325 .. 5325 C/T rs143059463 + CDS Nonsynonymous[Thr1683Met]
5366 .. 5366 G/T rs141137410 + CDS Nonsynonymous[Ala1697Ser]
5370 .. 5370 G/A rs138472236 + CDS Nonsynonymous[Arg1698His]
5403 .. 5403 G/C rs146153532 + CDS Nonsynonymous[Gly1709Ala]
5439 .. 5439 A/T rs149408006 + CDS Nonsynonymous[Gln1721Leu]
5444 .. 5444 C/G rs11558178 - CDS Nonsynonymous[Leu1723Val]
5459 .. 5459 C/G rs199827126 + CDS Nonsynonymous[Gln1728Glu]
5489 .. 5489 C/T rs148541407 + CDS Nonsynonymous[Arg1738Trp]
5499 .. 5499 G/A rs147678255 + CDS Nonsynonymous[Arg1741His]
5541 .. 5541 A/G rs121908961 + CDS Nonsynonymous[Glu1755Gly]
5556 .. 5556 C/A rs145272777 + CDS Nonsynonymous[Pro1760Gln]
5584 .. 5584 G/A rs140812535 + CDS Synonymous[Glu1769Glu]
5643 .. 5643 G/A rs148860301 + CDS Nonsynonymous[Arg1789Gln]
5647 .. 5647 C/T rs137855767 + CDS Synonymous[Pro1790Pro]
5656 .. 5656 C/T rs200879908 + CDS Synonymous[Ser1793Ser]
5701 .. 5701 C/T rs145143725 + CDS Synonymous[Val1808Val]
5711 .. 5711 C/T rs145832952 + CDS Nonsynonymous[Pro1812Ser]
5721 .. 5721 T/C rs148382335 + CDS Nonsynonymous[Leu1815Pro]
5726 .. 5726 C/T rs139879284 + CDS Nonsynonymous[Arg1817Trp]
5832 .. 5832 C/T rs199649417 + CDS Nonsynonymous[Thr1852Met]
5837 .. 5837 G/A rs201592500 + CDS Nonsynonymous[Glu1854Lys]
5853 .. 5853 T/C rs191052325 + CDS Nonsynonymous[Ile1859Thr]
5910 .. 5910 A/G rs199601326 + CDS Nonsynonymous[His1878Arg]
5916 .. 5916 G/A rs143939123 + CDS Nonsynonymous[Arg1880His]
5966 .. 5966 G/A rs115013641 + CDS Nonsynonymous[Asp1897Asn]
6053 .. 6053 C/T rs121908959 + CDS AA-STOP[Arg1926*]
6131 .. 6131 C/T rs144116735 + CDS Nonsynonymous[Arg1952Cys]
6168 .. 6168 C/G rs142160134 + CDS Nonsynonymous[Ser1964Cys]
6169 .. 6169 C/G rs140341988 + CDS Synonymous[Ser1964Ser]
6199 .. 6199 A/C/T rs17718530 + CDS
6222 .. 6222 A/G rs11558176 - CDS Nonsynonymous[Glu1982Gly]
6258 .. 6258 C/T rs201784424 + CDS Nonsynonymous[Ala1994Val]
6286 .. 6286 G/A rs138936064 + CDS Synonymous[Ala2003Ala]
6305 .. 6305 T/C rs188223743 + CDS Synonymous[Leu2010Leu]
6323 .. 6323 A/C rs201890095 + CDS Nonsynonymous[Ser2016Arg]
6338 .. 6338 C/T rs149357145 + CDS Nonsynonymous[Arg2021Trp]
6339 .. 6339 G/A rs115407852 + CDS Nonsynonymous[Arg2021Gln]
6356 .. 6356 C/T rs200921075 + CDS Nonsynonymous[Arg2027Trp]
6377 .. 6377 C/A rs11558177 - CDS Nonsynonymous[Pro2034Thr]
6397 .. 6397 G/A rs143762717 + CDS Synonymous[Arg2040Arg]
6403 .. 6403 C/T rs147263499 + CDS Synonymous[Pro2042Pro]
6412 .. 6412 C/A rs200994941 + CDS Synonymous[Ser2045Ser]
6461 .. 6461 C/T rs200990851 + CDS Nonsynonymous[Arg2062Trp]
6464 .. 6464 C/T rs121908955 + CDS Nonsynonymous[Arg2063Cys]
6470 .. 6470 C/T rs185617318 + CDS Nonsynonymous[Arg2065Trp]
6479 .. 6479 A/G rs150834671 + CDS Nonsynonymous[Ile2068Val]
6506 .. 6506 C/T rs201725164 + CDS Synonymous[Leu2077Leu]
6543 .. 6543 C/T rs149732545 + CDS Nonsynonymous[Pro2089Leu]
6544 .. 6544 G/A rs139267208 + CDS Synonymous[Pro2089Pro]
6610 .. 6610 C/T rs199573560 + 3'UTR
6636 .. 6636 G/A rs114777968 + 3'UTR
6678 .. 6678 C/A rs1802426 + 3'UTR
6690 .. 6690 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