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H-Invitational ID: HIT000195630 Accession number: M35296 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: 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 84 .. 84 G/A rs2306941 - 5'UTR 298 .. 298 G/A rs61821692 - CDS Nonsynonymous[Gly32Ser] 412 .. 412 G/A rs140292380 - CDS Nonsynonymous[Gly70Ser] 437 .. 437 G/A rs55655202 - CDS Nonsynonymous[Arg78His] 443 .. 443 A/G rs140935116 - CDS Nonsynonymous[Tyr80Cys] 496 .. 496 A/G rs201376490 - CDS Nonsynonymous[Lys98Glu] 510 .. 510 C/T rs200064313 - CDS Synonymous[Leu102Leu] 511 .. 511 G/A rs187540054 - CDS Nonsynonymous[Gly103Arg] 540 .. 540 C/T rs200298102 - CDS Synonymous[Phe112Phe] 541 .. 541 G/A rs201168871 - CDS Nonsynonymous[Val113Ile] 584 .. 584 G/A rs147306941 - CDS Nonsynonymous[Ser127Asn] 650 .. 650 G/A rs148596386 - CDS Nonsynonymous[Arg149His] 668 .. 668 G/T rs61821670 - CDS Nonsynonymous[Gly155Val] 713 ^ 714 -/A rs35945588 - CDS 748 .. 748 G/A rs149352120 - CDS Nonsynonymous[Ala182Thr] 854 .. 854 T/C rs112007604 - CDS Nonsynonymous[Val217Ala] 855 .. 855 G/A rs28914528 + CDS Synonymous[Val217Val] 1080 .. 1080 C/T rs180770623 - CDS Synonymous[His292His] 1092 .. 1092 C/T rs201235188 - CDS Synonymous[Gly296Gly] 1113 .. 1113 C/T rs56032037 - CDS Synonymous[Tyr303Tyr] 1120 .. 1120 G/A rs200847097 - CDS Nonsynonymous[Val306Ile] 1143 .. 1143 A/G rs28914532 + CDS Synonymous[Thr313Thr] 1159 .. 1159 T/C rs28914533 + CDS Synonymous[Leu319Leu] 1217 .. 1217 A/G rs192943572 - CDS Nonsynonymous[Glu338Gly] 1236 .. 1236 G/A rs143159520 - CDS Synonymous[Leu344Leu] 1274 .. 1274 T/G rs147552979 - CDS Nonsynonymous[Phe357Cys] 1287 .. 1287 T/G rs150181582 - CDS Synonymous[Thr361Thr] 1290 .. 1290 A/G rs139334603 - CDS Synonymous[Glu362Glu] 1310 .. 1310 T/A rs141559171 - CDS AA-STOP[Leu369*] 1344 .. 1344 G/A rs199688019 - CDS Synonymous[Glu380Glu] 1374 .. 1374 C/T rs201521779 - CDS Synonymous[Ala390Ala] 1501 .. 1501 T/C rs140036159 - CDS Synonymous[Leu433Leu] 1521 .. 1521 T/C rs142746259 - CDS Synonymous[Tyr439Tyr] 1606 .. 1606 G/A rs144729350 - CDS Nonsynonymous[Val468Ile] 1668 .. 1668 T/C rs138565389 - CDS Synonymous[Gly488Gly] 1698 .. 1698 A/C rs2274230 + CDS Synonymous[Leu498Leu] 1835 .. 1835 A/G rs146942033 - CDS Nonsynonymous[His544Arg] 1881 .. 1881 C/T rs151170340 - CDS Synonymous[Ala559Ala] 2024 .. 2024 C/T rs185583542 - CDS Nonsynonymous[Ala607Val] 2026 .. 2026 C/T rs148985886 - CDS Nonsynonymous[Pro608Ser] 2130 .. 2130 A/G rs144233543 - CDS Synonymous[Thr642Thr] 2165 .. 2165 G/C rs199575608 - CDS Nonsynonymous[Ser654Thr] 2194 .. 2194 A/G rs141450341 - CDS Nonsynonymous[Thr664Ala] 2197 .. 2197 C/A rs144066805 - CDS Nonsynonymous[Pro665Thr] 2202 .. 2202 C/T rs138240636 - CDS Synonymous[Pro666Pro] 2253 .. 2253 C/T rs146997813 - CDS Synonymous[Tyr683Tyr] 2261 .. 2261 C/T rs200298510 - CDS Nonsynonymous[Thr686Met] 2262 .. 2262 G/T rs28913887 + CDS Synonymous[Thr686Thr] 2291 .. 2291 A/G rs150953979 - CDS Nonsynonymous[Gln696Arg] 2321 .. 2321 C/A rs143839622 - CDS Nonsynonymous[Ala706Asp] 2363 ^ 2364 -/G rs67764190 - CDS 2394 .. 2394 C/T rs28913888 + CDS Synonymous[Asp730Asp] 2397 .. 2397 C/T rs144460998 - CDS Synonymous[Asp731Asp] 2398 .. 2398 G/A rs148512062 - CDS Nonsynonymous[Gly732Ser] 2406 .. 2406 G/T rs139820193 - CDS Synonymous[Gly734Gly] 2440 .. 2440 T/G rs78418476 - CDS Nonsynonymous[Ser746Ala] 2442 .. 2442 T/C rs147272038 - CDS Synonymous[Ser746Ser] 2468 .. 2468 G/A rs147435995 - CDS Nonsynonymous[Arg755His] 2478 .. 2478 A/G rs202245355 - CDS Synonymous[Lys758Lys] 2485 .. 2485 C/T rs140267087 - CDS Synonymous[Leu761Leu] 2554 .. 2554 A/T rs55892721 - CDS Nonsynonymous[Thr784Ser] 2711 .. 2711 A/T rs146696301 - CDS Nonsynonymous[Lys836Ile] 2718 .. 2718 G/A rs138005479 - CDS Synonymous[Glu838Glu] 2829 .. 2829 C/T rs61731092 - CDS Synonymous[Asp875Asp] 2870 .. 2870 A/- rs34839060 - CDS 2917 .. 2917 C/A rs201832781 - CDS Nonsynonymous[Pro905Thr] 2926 .. 2926 G/A rs145907038 - CDS Nonsynonymous[Gly908Arg] 2938 .. 2938 G/T rs140629135 - CDS Nonsynonymous[Gly912Cys] 2980 .. 2980 A/T rs202035355 - CDS Nonsynonymous[Thr926Ser] 2993 .. 2993 A/G rs17277288 - CDS Nonsynonymous[Lys930Arg] 3020 .. 3020 T/G rs201190336 - CDS Nonsynonymous[Leu939Arg] 3040 .. 3040 G/A rs28913889 + CDS Nonsynonymous[Val946Met] 3048 .. 3048 C/T rs35124879 - CDS Synonymous[Leu948Leu] 3053 .. 3053 G/T rs181288208 - CDS Nonsynonymous[Gly950Val] 3088 .. 3088 T/C rs150587634 - CDS Nonsynonymous[Ser962Pro] 3134 .. 3134 G/A rs137859710 - CDS Nonsynonymous[Arg977Gln] 3191 .. 3191 C/G rs28913890 + CDS Nonsynonymous[Pro996Arg] 3192 .. 3192 G/C rs150940806 - CDS Synonymous[Pro996Pro] 3219 .. 3219 G/A rs145868471 - CDS Synonymous[Glu1005Glu] 3223 .. 3223 A/G rs140945067 - CDS Nonsynonymous[Thr1007Ala] 3269 .. 3269 G/A rs201697670 - CDS Nonsynonymous[Gly1022Glu] 3293 .. 3293 T/C rs140016842 - CDS Nonsynonymous[Val1030Ala] 3360 .. 3360 C/A rs147901436 - CDS Synonymous[Ser1052Ser] 3366 .. 3366 G/T/A rs148651616 - CDS 3383 .. 3383 A/G rs189362240 - CDS Nonsynonymous[Asn1060Ser] 3389 .. 3389 C/T rs202244816 - CDS Nonsynonymous[Thr1062Ile] 3458 .. 3458 G/A rs28913891 + CDS Nonsynonymous[Ser1085Asn] 3487 .. 3487 C/A rs149947908 - CDS Nonsynonymous[Leu1095Ile] 3493 .. 3493 T/A rs146190825 - CDS Nonsynonymous[Ser1097Thr] 3495 .. 3495 C/T rs184267733 - CDS Synonymous[Ser1097Ser] 3497 .. 3497 G/A rs142446654 - CDS Nonsynonymous[Ser1098Asn] 3505 .. 3505 A/G rs28913892 + CDS Nonsynonymous[Thr1101Ala] 3582 .. 3582 C/T rs201035509 - CDS Synonymous[Cys1126Cys] 3636 .. 3636 A/G rs148342392 - CDS Synonymous[Glu1144Glu] 3662 .. 3662 C/T rs143405311 - CDS Nonsynonymous[Ser1153Phe] 3688 .. 3688 A/G rs138532009 - CDS Nonsynonymous[Thr1162Ala] 3694 .. 3694 C/G rs199707055 - CDS Nonsynonymous[Pro1164Ala] 3708 .. 3708 C/T rs141543536 - CDS Synonymous[Asn1168Asn] 3785 .. 3785 T/C rs28913893 + 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 361 434 - MamRTE1 1305 1420 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;