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H-Invitational ID: HIT000259635 Accession number: BC056910 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Calmodulin-regulated spectrin-associated protein 2.
 
 

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
93 .. 93 T/C rs139060150 + 5'UTR
151 .. 151 G/A rs146524997 + 5'UTR
155 .. 155 A/G rs139956440 + 5'UTR
175 .. 175 A/G rs147174162 + 5'UTR
202 .. 202 A/G rs57213993 + 5'UTR
218 .. 218 T/G rs139374750 + 5'UTR
236 .. 236 C/A rs201204792 + 5'UTR
242 .. 242 A/G rs12094164 + 5'UTR
316 .. 316 G/A rs60174212 + 5'UTR
329 .. 329 C/T rs192344465 + 5'UTR
396 .. 396 A/G rs142734259 + 5'UTR
538 .. 538 T/C rs200450056 + CDS Nonsynonymous[Met1Thr]
681 .. 681 A/G rs201209049 + CDS Nonsynonymous[Met49Val]
682 .. 682 T/C rs34958390 + CDS Nonsynonymous[Met49Thr]
686 .. 686 C/T rs184508081 + CDS Synonymous[Asp50Asp]
708 .. 708 T/G rs145929460 + CDS Nonsynonymous[Tyr58Asp]
753 .. 753 C/A rs143433419 + CDS Nonsynonymous[Leu73Ile]
775 .. 775 C/T rs201652870 + CDS Nonsynonymous[Thr80Ile]
914 .. 914 C/T rs139169028 + CDS Synonymous[Thr126Thr]
915 .. 915 G/A rs147411465 + CDS Nonsynonymous[Asp127Asn]
928 .. 928 G/A rs200988375 + CDS Nonsynonymous[Ser131Asn]
950 .. 950 T/C rs149158002 + CDS Synonymous[Thr138Thr]
1047 .. 1047 C/T rs147866762 + CDS Synonymous[Leu171Leu]
1142 .. 1142 C/G rs77774556 + CDS Synonymous[Thr202Thr]
1165 .. 1165 G/A rs150237696 + CDS Nonsynonymous[Arg210Lys]
1218 .. 1218 C/G rs139123420 + CDS Nonsynonymous[Arg228Gly]
1232 .. 1232 G/A rs137990490 + CDS Synonymous[Ala232Ala]
1268 .. 1268 A/G rs181927079 + CDS Synonymous[Ala244Ala]
1324 .. 1324 T/G rs145940629 + CDS Nonsynonymous[Ile263Arg]
1380 .. 1380 A/G rs189038502 + CDS Nonsynonymous[Ile282Val]
1463 .. 1463 C/T rs200612300 + CDS Synonymous[Ser309Ser]
1555 .. 1555 A/G rs144643907 + CDS Nonsynonymous[Gln340Arg]
1578 .. 1578 C/T rs71635518 + CDS Nonsynonymous[Pro348Ser]
1586 .. 1586 C/T rs149959195 + CDS Synonymous[Pro350Pro]
1604 .. 1604 T/C rs139788261 + CDS Synonymous[Ile356Ile]
1633 .. 1633 G/A rs200167069 + CDS Nonsynonymous[Gly366Asp]
1675 .. 1675 G/T rs144674686 + CDS Nonsynonymous[Arg380Leu]
1687 .. 1687 C/T rs3753952 + CDS Nonsynonymous[Pro384Leu]
1726 ^ 1727 -/C rs35376905 + CDS
1744 .. 1744 C/T rs145337502 + CDS Nonsynonymous[Thr403Ile]
1785 .. 1785 A/C rs71635519 + CDS Nonsynonymous[Thr417Pro]
1869 ^ 1870 -/C rs35239191 + CDS
1895 .. 1895 A/G rs200272887 + CDS Synonymous[Glu453Glu]
1896 .. 1896 C/T rs201133949 + CDS Nonsynonymous[Pro454Ser]
1897 .. 1897 C/G rs6674599 + CDS Nonsynonymous[Pro454Arg]
1915 .. 1915 A/G rs148338670 + CDS Nonsynonymous[Lys460Arg]
2075 .. 2075 G/A rs12137829 + CDS Synonymous[Glu513Glu]
2099 .. 2099 A/T rs140662328 + CDS Nonsynonymous[Glu521Asp]
2114 .. 2114 C/T rs141562761 + CDS Synonymous[Pro526Pro]
2146 .. 2146 A/G rs150711965 + CDS Nonsynonymous[Asn537Ser]
2211 .. 2211 T/C rs144044558 + CDS Nonsynonymous[Tyr559His]
2216 .. 2216 T/A rs185578027 + CDS Nonsynonymous[Asp560Glu]
2332 .. 2332 A/C rs144389476 + CDS Nonsynonymous[Glu599Ala]
2391 .. 2391 A/G rs191650745 + CDS Nonsynonymous[Met619Val]
2453 .. 2453 T/A rs147490223 + CDS Nonsynonymous[Asp639Glu]
2496 .. 2496 C/T rs199622691 + CDS Nonsynonymous[Arg654Trp]
2497 .. 2497 G/A rs151025521 + CDS Nonsynonymous[Arg654Gln]
 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