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H-Invitational ID: HIT000428415 Accession number: AK309549 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Abelson tyrosine-protein kinase 2; EC=2.7.10.2; Abelson murine leukemia viral oncogene homolog 2; Abelson-related gene protein; Tyrosine-protein kinase ARG;

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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 3 .. 3 A/G rs185101319 - 5'UTR 41 .. 41 T/C rs200931513 - CDS Synonymous[Leu3Leu] 44 .. 44 G/A rs200959542 - CDS Synonymous[Gly4Gly] 67 .. 67 G/C rs1318056 - CDS Nonsynonymous[Ser12Thr] 99 .. 99 T/A rs201683367 - CDS Nonsynonymous[Cys23Ser] 102 .. 102 C/A rs202125612 - CDS Nonsynonymous[Leu24Met] 195 .. 195 G/A rs140292380 - CDS Nonsynonymous[Gly55Ser] 220 .. 220 G/A rs55655202 - CDS Nonsynonymous[Arg63His] 226 .. 226 A/G rs140935116 - CDS Nonsynonymous[Tyr65Cys] 279 .. 279 A/G rs201376490 - CDS Nonsynonymous[Lys83Glu] 293 .. 293 C/T rs200064313 - CDS Synonymous[Leu87Leu] 294 .. 294 G/A rs187540054 - CDS Nonsynonymous[Gly88Arg] 323 .. 323 C/T rs200298102 - CDS Synonymous[Phe97Phe] 324 .. 324 G/A rs201168871 - CDS Nonsynonymous[Val98Ile] 367 .. 367 G/A rs147306941 - CDS Nonsynonymous[Ser112Asn] 433 .. 433 G/A rs148596386 - CDS Nonsynonymous[Arg134His] 451 .. 451 G/T rs61821670 - CDS Nonsynonymous[Gly140Val] 496 ^ 497 -/A rs35945588 - CDS 531 .. 531 G/A rs149352120 - CDS Nonsynonymous[Ala167Thr] 637 .. 637 T/C rs112007604 - CDS Nonsynonymous[Val202Ala] 638 .. 638 G/A rs28914528 + CDS Synonymous[Val202Val] 863 .. 863 C/T rs180770623 - CDS Synonymous[His277His] 875 .. 875 C/T rs201235188 - CDS Synonymous[Gly281Gly] 896 .. 896 C/T rs56032037 - CDS Synonymous[Tyr288Tyr] 903 .. 903 G/A rs200847097 - CDS Nonsynonymous[Val291Ile] 926 .. 926 A/G rs28914532 + CDS Synonymous[Thr298Thr] 942 .. 942 T/C rs28914533 + CDS Synonymous[Leu304Leu] 1000 .. 1000 A/G rs192943572 - CDS Nonsynonymous[Glu323Gly] 1019 .. 1019 G/A rs143159520 - CDS Synonymous[Leu329Leu] 1057 .. 1057 T/G rs147552979 - CDS Nonsynonymous[Phe342Cys] 1070 .. 1070 T/G rs150181582 - CDS Synonymous[Thr346Thr] 1073 .. 1073 A/G rs139334603 - CDS Synonymous[Glu347Glu] 1093 .. 1093 T/A rs141559171 - CDS AA-STOP[Leu354*] 1127 .. 1127 G/A rs199688019 - CDS Synonymous[Glu365Glu] 1157 .. 1157 C/T rs201521779 - CDS Synonymous[Ala375Ala] 1284 .. 1284 T/C rs140036159 - CDS Synonymous[Leu418Leu] 1304 .. 1304 T/C rs142746259 - CDS Synonymous[Tyr424Tyr] 1389 .. 1389 G/A rs144729350 - CDS Nonsynonymous[Val453Ile] 1418 .. 1418 T/C rs74388525 - CDS Synonymous[Phe462Phe] 1420 .. 1420 C/T rs76040121 - CDS Nonsynonymous[Ser463Phe] 1431 .. 1431 T/A rs78629915 - CDS Nonsynonymous[Tyr467Asn] 1436 .. 1436 T/A rs139017377 - CDS Nonsynonymous[Phe468Leu] 1442 ^ 1443 -/T rs56346584 - CDS 1477 .. 1477 G/A rs191517026 - CDS Nonsynonymous[Arg482Gln] 1536 .. 1536 G/A rs146191539 - CDS Nonsynonymous[Val502Ile] 1546 .. 1546 T/G rs186481839 - CDS Nonsynonymous[Leu505Arg] 1618 .. 1618 G/A rs144505173 - CDS Nonsynonymous[Cys529Tyr] 1642 .. 1642 A/G rs181244513 - CDS Nonsynonymous[Asp537Gly] 1647 .. 1647 T/G rs115703163 - CDS Nonsynonymous[Trp539Gly] 1659 .. 1659 G/A rs188314277 - 3'UTR 1743 .. 1743 C/T rs183613361 - 3'UTR 1833 .. 1833 G/A rs181902372 - 3'UTR 1836 .. 1836 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 L2 140 217 - L2a 1514 1574 - AluSz 1594 1876 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;