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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000018016 Accession number: AK093149 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Unconventional myosin-Vb;
 
 

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
179 .. 179 T/C rs73448728 - 5'UTR
275 .. 275 G/A rs139900608 - 5'UTR
283 .. 283 G/A rs145976385 - 5'UTR
328 .. 328 G/T rs115742937 - 5'UTR
377 .. 377 T/G rs16951438 - CDS Nonsynonymous[Cys9Gly]
417 .. 417 G/A rs202129020 - CDS Nonsynonymous[Arg22His]
487 .. 487 G/T rs201403876 - CDS Synonymous[Thr45Thr]
494 .. 494 G/C rs141998504 - CDS Nonsynonymous[Glu48Gln]
516 .. 516 G/T rs138743872 - CDS Nonsynonymous[Arg55Leu]
525 .. 525 T/C rs78626055 - CDS Nonsynonymous[Leu58Pro]
532 .. 532 C/G rs200086960 - CDS Nonsynonymous[Phe60Leu]
546 .. 546 A/C rs117920737 - CDS Nonsynonymous[Asp65Ala]
624 .. 624 G/A rs202205346 - CDS Nonsynonymous[Arg91His]
672 .. 672 T/G rs121908103 + CDS Nonsynonymous[Val107Gly]
725 .. 725 G/A rs1815930 + CDS Nonsynonymous[Ala125Thr]
727 .. 727 C/T rs201531684 - CDS Synonymous[Ala125Ala]
803 .. 803 A/G rs185864408 - CDS Nonsynonymous[Arg151Gly]
859 .. 859 G/A rs199862025 - CDS Synonymous[Thr169Thr]
880 .. 880 G/A rs200687310 - CDS Nonsynonymous[Met176Ile]
1054 .. 1054 C/T rs151001572 - CDS Synonymous[Ile234Ile]
1055 .. 1055 G/A rs200010695 - CDS Nonsynonymous[Gly235Arg]
1235 .. 1235 A/G rs79714279 - CDS Nonsynonymous[Ile295Val]
1237 .. 1237 C/T rs139200179 - CDS Synonymous[Ile295Ile]
1242 .. 1242 G/T rs144305793 - CDS Nonsynonymous[Gly297Val]
1246 .. 1246 G/T rs7240377 - CDS Synonymous[Val298Val]
1270 .. 1270 G/T rs17659179 - CDS Nonsynonymous[Lys306Asn]
1275 .. 1275 G/A rs200142429 - CDS Nonsynonymous[Arg308Gln]
1286 .. 1286 A/G rs182144565 - CDS Nonsynonymous[Thr312Ala]
1301 .. 1301 A/G rs199755279 - CDS Nonsynonymous[Lys317Glu]
1345 .. 1345 C/A rs16951352 - CDS Synonymous[Ile331Ile]
1366 .. 1366 G/A rs139934455 - CDS Synonymous[Ala338Ala]
1380 .. 1380 G/A rs189027956 - CDS Nonsynonymous[Arg343His]
1474 .. 1474 G/A rs121908104 + CDS AA-STOP[Trp374*]
1484 .. 1484 C/T rs190998983 - CDS Nonsynonymous[Arg378Cys]
1503 .. 1503 C/T rs200796610 - CDS Nonsynonymous[Ser384Leu]
1555 .. 1555 C/T rs11082795 - CDS Synonymous[Asn401Asn]
1589 .. 1589 G/A rs200773306 - CDS Nonsynonymous[Gly413Ser]
1603 .. 1603 G/T rs145905243 - CDS Nonsynonymous[Glu417Asp]
1611 .. 1611 A/G rs201374776 - CDS Nonsynonymous[Asn420Ser]
1612 .. 1612 C/G rs202093525 - CDS Nonsynonymous[Asn420Lys]
1841 .. 1841 G/A rs200175136 - CDS Nonsynonymous[Asp497Asn]
1867 .. 1867 C/T rs143987020 - CDS Synonymous[Ile505Ile]
1895 .. 1895 G/A rs192135533 - CDS Nonsynonymous[Val515Ile]
1939 .. 1939 C/G rs200469007 - CDS Nonsynonymous[Asp529Glu]
1953 .. 1953 G/A rs202201947 - CDS Nonsynonymous[Ser534Asn]
1986 .. 1986 C/T rs201372185 - CDS Nonsynonymous[Thr545Met]
2004 .. 2004 A/C rs7236435 - CDS Nonsynonymous[His551Pro]
2062 .. 2062 G/C rs185840586 - CDS Synonymous[Thr570Thr]
2104 .. 2104 C/T rs139542376 - CDS Synonymous[Phe584Phe]
2125 .. 2125 T/C rs181890135 - CDS Synonymous[Phe591Phe]
2134 .. 2134 C/A rs199774365 - CDS Nonsynonymous[Asp594Glu]
2135 .. 2135 A/G rs200548362 - CDS Nonsynonymous[Lys595Glu]
2142 .. 2142 C/T rs75107667 + CDS Nonsynonymous[Pro597Leu]
2156 .. 2156 A/G rs201639239 - CDS Nonsynonymous[Thr602Ala]
2166 .. 2166 A/G rs199813207 - CDS Nonsynonymous[Lys605Arg]
2189 .. 2189 G/A rs191746501 - CDS Nonsynonymous[Val613Ile]
2192 .. 2192 C/T rs186494043 - CDS Nonsynonymous[Arg614Cys]
2210 .. 2210 A/G rs200891104 - CDS Nonsynonymous[Met620Val]
2263 .. 2263 C/T rs2276166 + CDS Synonymous[Thr637Thr]
2266 .. 2266 C/A rs200316615 - CDS Synonymous[Ser638Ser]
2312 ^ 2313 -/C rs36114466 - CDS
2343 .. 2343 C/G rs202090244 - CDS Nonsynonymous[Ala664Gly]
2352 .. 2352 G/A rs199948930 - CDS Nonsynonymous[Arg667Gln]
2379 .. 2379 G/C rs201080553 - CDS Nonsynonymous[Arg676Pro]
2401 .. 2401 A/C rs78657366 - CDS Synonymous[Leu683Leu]
2416 .. 2416 C/A rs1058527 + CDS Nonsynonymous[His688Gln]
2417 .. 2417 A/G rs200172993 - CDS Nonsynonymous[Met689Val]
2441 .. 2441 A/C rs1058532 + CDS Nonsynonymous[Asn697His]
2464 .. 2464 C/G rs1058536 + CDS Nonsynonymous[Asp704Glu]
2482 .. 2482 G/A rs1058541 + CDS Synonymous[Ala710Ala]
2497 .. 2497 A/G rs1058543 + CDS Synonymous[Glu715Glu]
2519 .. 2519 T/C rs1058544 + CDS Nonsynonymous[Cys723Arg]
2529 .. 2529 C/T rs200197382 - CDS Nonsynonymous[Pro726Leu]
2539 .. 2539 T/C rs1058548 + CDS Synonymous[Val729Val]
2546 .. 2546 C/G rs200745043 - 3'UTR
2555 .. 2555 G/A rs1058550 + 3'UTR
2559 .. 2559 G/A rs1058551 + 3'UTR
2571 .. 2571 T/G rs1058553 + 3'UTR
2614 .. 2614 A/C rs11874243 - 3'UTR
2623 .. 2623 C/A rs112174362 - 3'UTR
2633 .. 2633 C/T rs200099625 - 3'UTR
2679 .. 2679 T/G rs3208550 + 3'UTR
2681 .. 2681 A/G rs1058554 + 3'UTR
2691 ^ 2692 -/T rs149289525 - 3'UTR
2695 .. 2695 C/A rs1058556 + 3'UTR
2717 .. 2717 T/G rs73436344 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
Type Start End Strand
MARNA 33 175 +
L2b 197 355 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer