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H-Invitational ID: HIT000558721 Accession number: FJ542285 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 94 .. 94 G/A rs61821692 - CDS Nonsynonymous[Gly32Ser] 170 .. 170 G/A rs55655202 - CDS Nonsynonymous[Arg57His] 176 .. 176 A/G rs140935116 - CDS Nonsynonymous[Tyr59Cys] 229 .. 229 A/G rs201376490 - CDS Nonsynonymous[Lys77Glu] 243 .. 243 C/T rs200064313 - CDS Synonymous[Leu81Leu] 244 .. 244 G/A rs187540054 - CDS Nonsynonymous[Gly82Arg] 273 .. 273 C/T rs200298102 - CDS Synonymous[Phe91Phe] 274 .. 274 G/A rs201168871 - CDS Nonsynonymous[Val92Ile] 317 .. 317 G/A rs147306941 - CDS Nonsynonymous[Ser106Asn] 383 .. 383 G/A rs148596386 - CDS Nonsynonymous[Arg128His] 401 .. 401 G/T rs61821670 - CDS Nonsynonymous[Gly134Val] 446 ^ 447 -/A rs35945588 - CDS 481 .. 481 G/A rs149352120 - CDS Nonsynonymous[Ala161Thr] 587 .. 587 T/C rs112007604 - CDS Nonsynonymous[Val196Ala] 588 .. 588 G/A rs28914528 + CDS Synonymous[Val196Val] 813 .. 813 C/T rs180770623 - CDS Synonymous[His271His] 825 .. 825 C/T rs201235188 - CDS Synonymous[Gly275Gly] 846 .. 846 C/T rs56032037 - CDS Synonymous[Tyr282Tyr] 853 .. 853 G/A rs200847097 - CDS Nonsynonymous[Val285Ile] 876 .. 876 A/G rs28914532 + CDS Synonymous[Thr292Thr] 892 .. 892 T/C rs28914533 + CDS Synonymous[Leu298Leu] 950 .. 950 A/G rs192943572 - CDS Nonsynonymous[Glu317Gly] 969 .. 969 G/A rs143159520 - CDS Synonymous[Leu323Leu] 1007 .. 1007 T/G rs147552979 - CDS Nonsynonymous[Phe336Cys] 1020 .. 1020 T/G rs150181582 - CDS Synonymous[Thr340Thr] 1023 .. 1023 A/G rs139334603 - CDS Synonymous[Glu341Glu] 1043 .. 1043 T/A rs141559171 - CDS AA-STOP[Leu348*] 1077 .. 1077 G/A rs199688019 - CDS Synonymous[Glu359Glu] 1107 .. 1107 C/T rs201521779 - CDS Synonymous[Ala369Ala] 1234 .. 1234 T/C rs140036159 - CDS Synonymous[Leu412Leu] 1254 .. 1254 T/C rs142746259 - CDS Synonymous[Tyr418Tyr] 1339 .. 1339 G/A rs144729350 - CDS Nonsynonymous[Val447Ile] 1401 .. 1401 T/C rs138565389 - CDS Synonymous[Gly467Gly] 1431 .. 1431 A/C rs2274230 + CDS Synonymous[Leu477Leu] 1568 .. 1568 A/G rs146942033 - CDS Nonsynonymous[His523Arg] 1614 .. 1614 C/T rs151170340 - CDS Synonymous[Ala538Ala] 1757 .. 1757 C/T rs185583542 - CDS Nonsynonymous[Ala586Val] 1759 .. 1759 C/T rs148985886 - CDS Nonsynonymous[Pro587Ser] 1863 .. 1863 A/G rs144233543 - CDS Synonymous[Thr621Thr] 1898 .. 1898 G/C rs199575608 - CDS Nonsynonymous[Ser633Thr] 1927 .. 1927 A/G rs141450341 - CDS Nonsynonymous[Thr643Ala] 1930 .. 1930 C/A rs144066805 - CDS Nonsynonymous[Pro644Thr] 1935 .. 1935 C/T rs138240636 - CDS Synonymous[Pro645Pro] 1986 .. 1986 C/T rs146997813 - CDS Synonymous[Tyr662Tyr] 1994 .. 1994 C/T rs200298510 - CDS Nonsynonymous[Thr665Met] 1995 .. 1995 G/T rs28913887 + CDS Synonymous[Thr665Thr] 2024 .. 2024 A/G rs150953979 - CDS Nonsynonymous[Gln675Arg] 2054 .. 2054 C/A rs143839622 - CDS Nonsynonymous[Ala685Asp] 2096 ^ 2097 -/G rs67764190 - CDS 2127 .. 2127 C/T rs28913888 + CDS Synonymous[Asp709Asp] 2130 .. 2130 C/T rs144460998 - CDS Synonymous[Asp710Asp] 2131 .. 2131 G/A rs148512062 - CDS Nonsynonymous[Gly711Ser] 2139 .. 2139 G/T rs139820193 - CDS Synonymous[Gly713Gly] 2173 .. 2173 T/G rs78418476 - CDS Nonsynonymous[Ser725Ala] 2175 .. 2175 T/C rs147272038 - CDS Synonymous[Ser725Ser] 2201 .. 2201 G/A rs147435995 - CDS Nonsynonymous[Arg734His] 2211 .. 2211 A/G rs202245355 - CDS Synonymous[Lys737Lys] 2218 .. 2218 C/T rs140267087 - CDS Synonymous[Leu740Leu] 2287 .. 2287 A/T rs55892721 - CDS Nonsynonymous[Thr763Ser] 2444 .. 2444 A/T rs146696301 - CDS Nonsynonymous[Lys815Ile] 2451 .. 2451 G/A rs138005479 - CDS Synonymous[Glu817Glu] 2562 .. 2562 C/T rs61731092 - CDS Synonymous[Asp854Asp] 2603 .. 2603 A/- rs34839060 - CDS 2650 .. 2650 C/A rs201832781 - CDS Nonsynonymous[Pro884Thr] 2659 .. 2659 G/A rs145907038 - CDS Nonsynonymous[Gly887Arg] 2671 .. 2671 G/T rs140629135 - CDS Nonsynonymous[Gly891Cys] 2713 .. 2713 A/T rs202035355 - CDS Nonsynonymous[Thr905Ser] 2726 .. 2726 A/G rs17277288 - CDS Nonsynonymous[Lys909Arg] 2753 .. 2753 T/G rs201190336 - CDS Nonsynonymous[Leu918Arg] 2773 .. 2773 G/A rs28913889 + CDS Nonsynonymous[Val925Met] 2781 .. 2781 C/T rs35124879 - CDS Synonymous[Leu927Leu] 2786 .. 2786 G/T rs181288208 - CDS Nonsynonymous[Gly929Val] 2821 .. 2821 T/C rs150587634 - CDS Nonsynonymous[Ser941Pro] 2867 .. 2867 G/A rs137859710 - CDS Nonsynonymous[Arg956Gln] 2924 .. 2924 C/G rs28913890 + CDS Nonsynonymous[Pro975Arg] 2925 .. 2925 G/C rs150940806 - CDS Synonymous[Pro975Pro] 2952 .. 2952 G/A rs145868471 - CDS Synonymous[Glu984Glu] 2956 .. 2956 A/G rs140945067 - CDS Nonsynonymous[Thr986Ala] 3002 .. 3002 G/A rs201697670 - CDS Nonsynonymous[Gly1001Glu] 3026 .. 3026 T/C rs140016842 - CDS Nonsynonymous[Val1009Ala] 3093 .. 3093 C/A rs147901436 - CDS Synonymous[Ser1031Ser] 3099 .. 3099 G/T/A rs148651616 - CDS 3116 .. 3116 A/G rs189362240 - CDS Nonsynonymous[Asn1039Ser] 3122 .. 3122 C/T rs202244816 - CDS Nonsynonymous[Thr1041Ile] 3191 .. 3191 G/A rs28913891 + CDS Nonsynonymous[Ser1064Asn] 3220 .. 3220 C/A rs149947908 - CDS Nonsynonymous[Leu1074Ile] 3226 .. 3226 T/A rs146190825 - CDS Nonsynonymous[Ser1076Thr] 3228 .. 3228 C/T rs184267733 - CDS Synonymous[Ser1076Ser] 3230 .. 3230 G/A rs142446654 - CDS Nonsynonymous[Ser1077Asn] 3238 .. 3238 A/G rs28913892 + CDS Nonsynonymous[Thr1080Ala] 3315 .. 3315 C/T rs201035509 - CDS Synonymous[Cys1105Cys] 3369 .. 3369 A/G rs148342392 - CDS Synonymous[Glu1123Glu] 3395 .. 3395 C/T rs143405311 - CDS Nonsynonymous[Ser1132Phe] 3421 .. 3421 A/G rs138532009 - CDS Nonsynonymous[Thr1141Ala] 3427 .. 3427 C/G rs199707055 - CDS Nonsynonymous[Pro1143Ala] 3441 .. 3441 C/T rs141543536 - CDS Synonymous[Asn1147Asn]  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 MamRTE1 1038 1153 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;