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H-Invitational ID: HIT000563881 Accession number: AB593080 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Beta-adducin isoform f.
 
 

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
143 .. 143 C/T rs2287099 - 5'UTR
150 .. 150 G/T rs28365917 + 5'UTR
159 .. 159 T/A rs2287098 - 5'UTR
247 .. 247 C/T rs2287097 - 5'UTR
260 .. 260 T/C rs115262291 - 5'UTR
280 .. 280 A/G rs146289331 - 5'UTR
383 .. 383 C/T rs188664399 - CDS Synonymous[Pro13Pro]
387 .. 387 G/A rs199889944 - CDS Nonsynonymous[Gly15Arg]
391 .. 391 A/G rs62642474 - CDS Nonsynonymous[Lys16Arg]
399 .. 399 G/A rs200519011 - CDS Nonsynonymous[Glu19Lys]
439 .. 439 A/G rs201443444 - CDS Nonsynonymous[Gln32Arg]
442 .. 442 G/A rs34241538 + CDS Nonsynonymous[Gly33Glu]
474 .. 474 G/A rs4986 + CDS Nonsynonymous[Asp44Asn]
509 .. 509 G/A rs141187526 - CDS Synonymous[Ala55Ala]
517 .. 517 G/A rs144732476 - CDS Nonsynonymous[Arg58Gln]
524 .. 524 C/G rs138167651 - CDS Nonsynonymous[Asp60Glu]
591 .. 591 C/T rs114456016 - CDS Synonymous[Leu83Leu]
598 .. 598 G/T rs149147182 - CDS Nonsynonymous[Gly85Val]
644 .. 644 C/A rs17006140 - CDS Synonymous[Ile100Ile]
653 .. 653 G/A rs144778680 - CDS Synonymous[Leu103Leu]
662 .. 662 C/T rs200212314 - CDS Synonymous[Ile106Ile]
663 .. 663 G/A rs150703767 - CDS Nonsynonymous[Ala107Thr]
685 .. 685 C/G rs4987 + CDS Nonsynonymous[Ser114Cys]
701 .. 701 G/A rs144423262 - CDS Synonymous[Pro119Pro]
780 .. 780 G/A rs75081591 - CDS Nonsynonymous[Glu146Lys]
789 .. 789 A/C rs145968821 - CDS Nonsynonymous[Met149Leu]
830 .. 830 C/G rs114904807 - CDS Synonymous[Leu162Leu]
892 .. 892 A/G rs138007719 - CDS Nonsynonymous[His183Arg]
938 .. 938 G/A rs150383515 - CDS Synonymous[Ala198Ala]
945 .. 945 C/T rs200581515 - CDS Synonymous[Leu201Leu]
955 .. 955 T/A rs7425188 - CDS Nonsynonymous[Val204Glu]
999 .. 999 C/T rs148091443 - CDS Nonsynonymous[Pro219Ser]
1016 .. 1016 C/T rs147916626 - CDS Synonymous[Gly224Gly]
1031 .. 1031 G/A rs144869244 - CDS Synonymous[Ser229Ser]
1043 .. 1043 A/G rs181512905 - CDS Synonymous[Ala233Ala]
1056 .. 1056 G/A rs144714020 - CDS Nonsynonymous[Val238Met]
1065 .. 1065 A/G rs200730724 - CDS Nonsynonymous[Ile241Val]
1078 .. 1078 A/G rs201811808 - CDS Nonsynonymous[His245Arg]
1224 .. 1224 C/G rs145329028 - CDS Nonsynonymous[Leu294Val]
1250 .. 1250 G/A rs139387703 - CDS Synonymous[Val302Val]
1251 .. 1251 C/T rs111700825 - CDS Synonymous[Leu303Leu]
1266 .. 1266 G/T rs139808041 - CDS Nonsynonymous[Val308Leu]
1301 .. 1301 T/C rs4989 + CDS Synonymous[Phe319Phe]
1346 .. 1346 G/A rs142433540 - CDS Synonymous[Ser334Ser]
1362 .. 1362 G/A rs201864311 - CDS Nonsynonymous[Gly340Arg]
1388 .. 1388 G/A rs144529989 - CDS Synonymous[Leu348Leu]
1396 .. 1396 A/T rs61030669 - CDS Nonsynonymous[Glu351Val]
1397 .. 1397 G/T rs4982 + CDS Nonsynonymous[Glu351Asp]
1403 .. 1403 C/A rs142392995 - CDS Nonsynonymous[His353Gln]
1405 .. 1405 G/A rs146561886 - CDS Nonsynonymous[Arg354Gln]
1537 .. 1537 C/T rs145886276 - CDS Nonsynonymous[Thr398Met]
1538 .. 1538 G/A rs139827624 - CDS Synonymous[Thr398Thr]
1600 .. 1600 C/T rs199834771 - CDS Nonsynonymous[Thr419Met]
1614 .. 1614 G/A rs34196785 + CDS Nonsynonymous[Val424Met]
1624 .. 1624 A/G rs150772862 - CDS Nonsynonymous[Glu427Gly]
1637 .. 1637 G/A rs148662450 - CDS Synonymous[Pro431Pro]
1699 .. 1699 C/T rs201022450 - CDS Nonsynonymous[Thr452Met]
1700 .. 1700 G/T rs143711744 - CDS Synonymous[Thr452Thr]
1707 .. 1707 A/G rs17855969 - CDS Nonsynonymous[Thr455Ala]
1768 .. 1768 A/G rs201449367 - CDS Nonsynonymous[Lys475Arg]
1790 .. 1790 C/T rs188058882 - CDS Synonymous[Asp482Asp]
1820 .. 1820 G/A rs34884423 + CDS Synonymous[Pro492Pro]
1825 .. 1825 G/A rs150426440 - CDS Nonsynonymous[Arg494His]
1829 .. 1829 C/T rs199802003 - CDS Synonymous[Ile495Ile]
1894 .. 1894 A/G rs112879637 - CDS Nonsynonymous[Lys517Arg]
1901 .. 1901 A/C rs145174076 - CDS Synonymous[Arg519Arg]
1931 .. 1931 G/C rs115841739 - CDS Synonymous[Ala529Ala]
1958 .. 1958 C/T rs148402316 - CDS Synonymous[Ser538Ser]
1967 .. 1967 C/G rs201133279 - CDS Synonymous[Ala541Ala]
1975 .. 1975 G/C rs149689098 - CDS Nonsynonymous[Ser544Thr]
1978 .. 1978 G/T rs114311724 - CDS Nonsynonymous[Arg545Leu]
2032 .. 2032 C/T rs186003276 - CDS Nonsynonymous[Ser563Leu]
2108 .. 2108 C/A rs182684280 - 3'UTR
2195 .. 2195 C/G rs141640910 - 3'UTR
2249 .. 2249 C/T rs79008423 - 3'UTR
2422 .. 2422 T/C rs191262178 - 3'UTR
2449 .. 2449 C/G rs73937000 - 3'UTR
2522 .. 2522 G/C rs147970409 - 3'UTR
2537 .. 2537 C/T rs186416318 - 3'UTR
2594 .. 2594 C/G rs11677026 - 3'UTR
2655 .. 2655 T/A rs60199172 - 3'UTR
2882 .. 2882 G/A rs181643366 - 3'UTR
2913 .. 2913 C/G rs144841702 - 3'UTR
2968 .. 2968 G/A rs149443844 - 3'UTR
3093 .. 3093 G/A rs116545672 - 3'UTR
3196 .. 3196 G/A rs74957339 - 3'UTR
3244 .. 3244 G/T rs78324245 - 3'UTR
3285 .. 3285 G/A rs139011150 - 3'UTR
3290 .. 3290 G/A rs145128349 - 3'UTR
3409 .. 3409 C/T rs188892835 - 3'UTR
3414 .. 3414 G/A rs75139347 - 3'UTR
3528 .. 3528 G/C rs142936633 - 3'UTR
3575 .. 3575 G/A rs41310966 + 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
MIRc 2120 2178 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer