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H-Invitational ID: HIT000384385 Accession number: AK225255 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Abelson tyrosine-protein kinase 2 isoform e.

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 34 .. 34 T/C rs200931513 - CDS Synonymous[Leu3Leu] 37 .. 37 G/A rs200959542 - CDS Synonymous[Gly4Gly] 60 .. 60 G/C rs1318056 - CDS Nonsynonymous[Ser12Thr] 92 .. 92 T/A rs201683367 - CDS Nonsynonymous[Cys23Ser] 95 .. 95 C/A rs202125612 - CDS Nonsynonymous[Leu24Met] 150 .. 150 G/A rs55655202 - CDS Nonsynonymous[Arg42His] 156 .. 156 A/G rs140935116 - CDS Nonsynonymous[Tyr44Cys] 209 .. 209 A/G rs201376490 - CDS Nonsynonymous[Lys62Glu] 223 .. 223 C/T rs200064313 - CDS Synonymous[Leu66Leu] 224 .. 224 G/A rs187540054 - CDS Nonsynonymous[Gly67Arg] 253 .. 253 C/T rs200298102 - CDS Synonymous[Phe76Phe] 254 .. 254 G/A rs201168871 - CDS Nonsynonymous[Val77Ile] 297 .. 297 G/A rs147306941 - CDS Nonsynonymous[Ser91Asn] 363 .. 363 G/A rs148596386 - CDS Nonsynonymous[Arg113His] 381 .. 381 G/T rs61821670 - CDS Nonsynonymous[Gly119Val] 426 ^ 427 -/A rs35945588 - CDS 461 .. 461 G/A rs149352120 - CDS Nonsynonymous[Ala146Thr] 567 .. 567 T/C rs112007604 - CDS Nonsynonymous[Val181Ala] 568 .. 568 G/A rs28914528 + CDS Synonymous[Val181Val] 793 .. 793 C/T rs180770623 - CDS Synonymous[His256His] 805 .. 805 C/T rs201235188 - CDS Synonymous[Gly260Gly] 826 .. 826 C/T rs56032037 - CDS Synonymous[Tyr267Tyr] 833 .. 833 G/A rs200847097 - CDS Nonsynonymous[Val270Ile] 856 .. 856 A/G rs28914532 + CDS Synonymous[Thr277Thr] 872 .. 872 T/C rs28914533 + CDS Synonymous[Leu283Leu] 930 .. 930 A/G rs192943572 - CDS Nonsynonymous[Glu302Gly] 949 .. 949 G/A rs143159520 - CDS Synonymous[Leu308Leu] 987 .. 987 T/G rs147552979 - CDS Nonsynonymous[Phe321Cys] 1000 .. 1000 T/G rs150181582 - CDS Synonymous[Thr325Thr] 1003 .. 1003 A/G rs139334603 - CDS Synonymous[Glu326Glu] 1023 .. 1023 T/A rs141559171 - CDS AA-STOP[Leu333*] 1057 .. 1057 G/A rs199688019 - CDS Synonymous[Glu344Glu] 1087 .. 1087 C/T rs201521779 - CDS Synonymous[Ala354Ala] 1214 .. 1214 T/C rs140036159 - CDS Synonymous[Leu397Leu] 1234 .. 1234 T/C rs142746259 - CDS Synonymous[Tyr403Tyr] 1319 .. 1319 G/A rs144729350 - CDS Nonsynonymous[Val432Ile] 1348 .. 1348 T/C rs74388525 - CDS Synonymous[Phe441Phe] 1349 .. 1349 C/T rs76040121 - CDS Synonymous[Leu442Leu] 1360 .. 1360 T/A rs78629915 - CDS Nonsynonymous[Phe445Leu] 1365 .. 1365 T/A rs139017377 - CDS Nonsynonymous[Phe447Tyr] 1371 ^ 1372 -/T rs56346584 - CDS 1406 .. 1406 G/A rs191517026 - 3'UTR 1465 .. 1465 G/A rs146191539 - 3'UTR 1475 .. 1475 T/G rs186481839 - 3'UTR 1547 .. 1547 G/A rs144505173 - 3'UTR 1571 .. 1571 A/G rs181244513 - 3'UTR 1576 .. 1576 T/G rs115703163 - 3'UTR 1588 .. 1588 G/A rs188314277 - 3'UTR 1672 .. 1672 C/T rs183613361 - 3'UTR 1762 .. 1762 G/A rs181902372 - 3'UTR 1765 .. 1765 C/A rs61821668 - 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand L2a 1443 1503 - AluSz 1523 1833 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;