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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000497988 Accession number: AK303364 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Dysferlin isoform 10.
 
 

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
22 .. 22 T/A rs2303604 + 5'UTR
98 .. 98 T/C rs112237813 + 5'UTR
150 .. 150 T/G rs141740044 + 5'UTR
176 .. 176 G/T rs150549936 + CDS Nonsynonymous[Met7Ile]
237 .. 237 C/T rs202061751 + CDS Nonsynonymous[His28Tyr]
276 .. 276 A/G rs121908954 + CDS Nonsynonymous[Ile41Val]
284 .. 284 T/A rs201998440 + CDS Nonsynonymous[Asp43Glu]
298 .. 298 C/A rs116426399 + CDS Nonsynonymous[Thr48Lys]
300 .. 300 G/A rs149023297 + CDS Nonsynonymous[Asp49Asn]
335 .. 335 C/T rs201966225 + CDS Synonymous[Asn60Asn]
351 .. 351 C/G rs147950418 + CDS Nonsynonymous[Gln66Glu]
356 .. 356 C/T rs11558179 - CDS Synonymous[Asn67Asn]
357 .. 357 A/G rs145401010 + CDS Nonsynonymous[Ile68Val]
367 .. 367 C/T rs201476613 + CDS Nonsynonymous[Ala71Val]
376 .. 376 G/T rs61742872 + CDS Nonsynonymous[Arg74Leu]
380 .. 380 C/T rs138751942 + CDS Synonymous[Thr75Thr]
384 .. 384 A/G rs146242836 + CDS Nonsynonymous[Ile77Val]
392 .. 392 C/A rs2303606 + CDS Synonymous[Ile79Ile]
408 .. 408 C/T rs199870606 + CDS Nonsynonymous[Arg85Trp]
436 .. 436 A/G rs139529811 + CDS Nonsynonymous[Asn94Ser]
452 .. 452 C/T rs2303607 + CDS Synonymous[Ser99Ser]
473 .. 473 C/T rs145412880 + CDS Synonymous[Gly106Gly]
478 .. 478 C/T rs149182447 + CDS Nonsynonymous[Thr108Met]
582 .. 582 C/G/T rs151268930 + CDS
583 .. 583 C/G rs138268837 + CDS Nonsynonymous[Pro143Arg]
584 .. 584 C/T rs142769942 + CDS Synonymous[Pro143Pro]
609 .. 609 C/T rs138097846 + CDS Nonsynonymous[Arg152Cys]
671 .. 671 G/A rs144072850 + CDS Synonymous[Leu172Leu]
679 .. 679 C/A rs142776870 + CDS Nonsynonymous[Pro175His]
685 .. 685 C/T rs139411595 + CDS Nonsynonymous[Ser177Leu]
702 .. 702 C/T rs151109021 + CDS Nonsynonymous[Pro183Ser]
707 .. 707 G/A rs76576806 + CDS Synonymous[Gln184Gln]
719 .. 719 C/T rs61746816 + CDS Synonymous[Asp188Asp]
758 .. 758 C/T rs145690047 + CDS Synonymous[Ile201Ile]
760 .. 760 A/G rs61738567 + CDS Nonsynonymous[Asp202Gly]
872 .. 872 C/T rs148055736 + CDS Synonymous[Ile239Ile]
927 .. 927 T/C rs150139276 + CDS Nonsynonymous[Tyr258His]
938 .. 938 G/T rs182185801 + CDS Nonsynonymous[Lys261Asn]
949 .. 949 C/A rs200809348 + CDS Nonsynonymous[Thr265Asn]
951 .. 951 C/T rs7573406 + CDS Synonymous[Leu266Leu]
956 .. 956 G/A rs199861501 + CDS Synonymous[Lys267Lys]
957 .. 957 G/A rs143895253 + CDS Nonsynonymous[Val268Ile]
959 .. 959 C/G rs142483266 + CDS Synonymous[Val268Val]
1003 .. 1003 C/A rs201226634 + CDS Nonsynonymous[Ser283Tyr]
1024 .. 1024 A/C rs76086153 + CDS Nonsynonymous[Lys290Thr]
1033 .. 1033 G/A rs191383034 + CDS Nonsynonymous[Arg293Gln]
1042 .. 1042 C/T rs144422408 + CDS Nonsynonymous[Thr296Met]
1110 .. 1110 C/T rs149768871 + CDS Nonsynonymous[Pro319Ser]
1122 .. 1122 G/A rs146213322 + CDS Nonsynonymous[Ala323Thr]
1161 .. 1161 G/A rs143163327 + CDS Nonsynonymous[Ala336Thr]
1178 .. 1178 G/A rs62145939 + CDS Synonymous[Glu341Glu]
1189 .. 1189 G/A rs185596534 + CDS Nonsynonymous[Arg345His]
1241 .. 1241 G/T rs141704244 + CDS Nonsynonymous[Lys362Asn]
1266 .. 1266 A/G rs138357301 + CDS Nonsynonymous[Ile371Val]
1267 .. 1267 T/C rs146384562 + CDS Nonsynonymous[Ile371Thr]
1304 .. 1304 C/A rs113744167 + CDS Synonymous[Ile383Ile]
1312 .. 1312 C/T rs144383140 + CDS Nonsynonymous[Thr386Met]
1313 .. 1313 G/T rs142301132 + CDS Synonymous[Thr386Thr]
1323 .. 1323 G/A rs147056383 + CDS Nonsynonymous[Val390Ile]
1340 .. 1340 C/T rs151276652 + CDS Synonymous[Phe395Phe]
1352 .. 1352 C/T rs149989207 + CDS Synonymous[Cys399Cys]
1388 .. 1388 C/A rs141476432 + CDS Synonymous[Leu411Leu]
1424 .. 1424 C/T rs149087116 + CDS Synonymous[Ile423Ile]
1432 .. 1432 C/T rs143059463 + CDS Nonsynonymous[Thr426Met]
1473 .. 1473 G/T rs141137410 + CDS Nonsynonymous[Ala440Ser]
1477 .. 1477 G/A rs138472236 + CDS Nonsynonymous[Arg441His]
1510 .. 1510 G/C rs146153532 + CDS Nonsynonymous[Gly452Ala]
1546 .. 1546 A/T rs149408006 + CDS Nonsynonymous[Gln464Leu]
1551 .. 1551 C/G rs11558178 - CDS Nonsynonymous[Leu466Val]
1566 .. 1566 C/G rs199827126 + CDS Nonsynonymous[Gln471Glu]
1596 .. 1596 C/T rs148541407 + CDS Nonsynonymous[Arg481Trp]
1606 .. 1606 G/A rs147678255 + CDS Nonsynonymous[Arg484His]
1648 .. 1648 A/G rs121908961 + CDS Nonsynonymous[Glu498Gly]
1663 .. 1663 C/A rs145272777 + CDS Nonsynonymous[Pro503Gln]
1691 .. 1691 G/A rs140812535 + CDS Synonymous[Glu512Glu]
1750 .. 1750 G/A rs148860301 + CDS Nonsynonymous[Arg532Gln]
1754 .. 1754 C/T rs137855767 + CDS Synonymous[Pro533Pro]
1763 .. 1763 C/T rs200879908 + CDS Synonymous[Ser536Ser]
1808 .. 1808 C/T rs145143725 + CDS Synonymous[Val551Val]
1818 .. 1818 C/T rs145832952 + CDS Nonsynonymous[Pro555Ser]
1828 .. 1828 T/C rs148382335 + CDS Nonsynonymous[Leu558Pro]
1833 .. 1833 C/T rs139879284 + CDS Nonsynonymous[Arg560Trp]
1939 .. 1939 C/T rs199649417 + CDS Nonsynonymous[Thr595Met]
1944 .. 1944 G/A rs201592500 + CDS Nonsynonymous[Glu597Lys]
1960 .. 1960 T/C rs191052325 + CDS Nonsynonymous[Ile602Thr]
2017 .. 2017 A/G rs199601326 + CDS Nonsynonymous[His621Arg]
2023 .. 2023 G/A rs143939123 + CDS Nonsynonymous[Arg623His]
2073 .. 2073 G/A rs115013641 + CDS Nonsynonymous[Asp640Asn]
2160 .. 2160 C/T rs121908959 + CDS AA-STOP[Arg669*]
2238 .. 2238 C/T rs144116735 + CDS Nonsynonymous[Arg695Cys]
2275 .. 2275 C/G rs142160134 + CDS Nonsynonymous[Ser707Cys]
2276 .. 2276 C/G rs140341988 + CDS Synonymous[Ser707Ser]
2306 .. 2306 C/A/T rs17718530 + CDS
2329 .. 2329 A/G rs11558176 - CDS Nonsynonymous[Glu725Gly]
2365 .. 2365 C/T rs201784424 + CDS Nonsynonymous[Ala737Val]
2393 .. 2393 G/A rs138936064 + CDS Synonymous[Ala746Ala]
2412 .. 2412 T/C rs188223743 + CDS Synonymous[Leu753Leu]
2430 .. 2430 A/C rs201890095 + CDS Nonsynonymous[Ser759Arg]
2445 .. 2445 C/T rs149357145 + CDS Nonsynonymous[Arg764Trp]
2446 .. 2446 G/A rs115407852 + CDS Nonsynonymous[Arg764Gln]
2463 .. 2463 C/T rs200921075 + CDS Nonsynonymous[Arg770Trp]
2484 .. 2484 C/A rs11558177 - CDS Nonsynonymous[Pro777Thr]
2504 .. 2504 G/A rs143762717 + CDS Synonymous[Arg783Arg]
2510 .. 2510 C/T rs147263499 + CDS Synonymous[Pro785Pro]
2519 .. 2519 C/A rs200994941 + CDS Synonymous[Ser788Ser]
2568 .. 2568 C/T rs200990851 + CDS Nonsynonymous[Arg805Trp]
2571 .. 2571 C/T rs121908955 + CDS Nonsynonymous[Arg806Cys]
2577 .. 2577 C/T rs185617318 + CDS Nonsynonymous[Arg808Trp]
2586 .. 2586 A/G rs150834671 + CDS Nonsynonymous[Ile811Val]
2613 .. 2613 C/T rs201725164 + CDS Synonymous[Leu820Leu]
2650 .. 2650 C/T rs149732545 + CDS Nonsynonymous[Pro832Leu]
2651 .. 2651 G/A rs139267208 + CDS Synonymous[Pro832Pro]
2717 .. 2717 C/T rs199573560 + 3'UTR
2743 .. 2743 G/A rs114777968 + 3'UTR
2785 .. 2785 C/A rs1802426 + 3'UTR
2797 .. 2797 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