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H-Invitational ID: HIT000429911 Accession number: AK311045 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Abelson tyrosine-protein kinase 2 isoform e.
 
 

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
30 .. 30 T/-/C rs35484727 - 5'UTR
30 ^ 31 -/GGCGGC rs3046363 - 5'UTR
32 .. 32 G/-/TGG/CGGCGGTGG rs34507784 - 5'UTR
46 ^ 47 -/CGGCGG rs72422475 - 5'UTR
47 ^ 48 -/GGCGGC rs72207668 - 5'UTR
48 ^ 49 -/GCGGCG rs72055021 - 5'UTR
164 .. 164 A/G rs2306941 - 5'UTR
378 .. 378 G/A rs61821692 - CDS Nonsynonymous[Gly32Ser]
454 .. 454 G/A rs55655202 - CDS Nonsynonymous[Arg57His]
460 .. 460 A/G rs140935116 - CDS Nonsynonymous[Tyr59Cys]
513 .. 513 A/G rs201376490 - CDS Nonsynonymous[Lys77Glu]
527 .. 527 C/T rs200064313 - CDS Synonymous[Leu81Leu]
528 .. 528 G/A rs187540054 - CDS Nonsynonymous[Gly82Arg]
557 .. 557 C/T rs200298102 - CDS Synonymous[Phe91Phe]
558 .. 558 G/A rs201168871 - CDS Nonsynonymous[Val92Ile]
601 .. 601 G/A rs147306941 - CDS Nonsynonymous[Ser106Asn]
667 .. 667 G/A rs148596386 - CDS Nonsynonymous[Arg128His]
685 .. 685 G/T rs61821670 - CDS Nonsynonymous[Gly134Val]
730 ^ 731 -/A rs35945588 - CDS
765 .. 765 G/A rs149352120 - CDS Nonsynonymous[Ala161Thr]
871 .. 871 T/C rs112007604 - CDS Nonsynonymous[Val196Ala]
872 .. 872 G/A rs28914528 + CDS Synonymous[Val196Val]
1097 .. 1097 C/T rs180770623 - CDS Synonymous[His271His]
1109 .. 1109 C/T rs201235188 - CDS Synonymous[Gly275Gly]
1130 .. 1130 C/T rs56032037 - CDS Synonymous[Tyr282Tyr]
1137 .. 1137 G/A rs200847097 - CDS Nonsynonymous[Val285Ile]
1160 .. 1160 A/G rs28914532 + CDS Synonymous[Thr292Thr]
1176 .. 1176 T/C rs28914533 + CDS Synonymous[Leu298Leu]
1234 .. 1234 A/G rs192943572 - CDS Nonsynonymous[Glu317Gly]
1253 .. 1253 G/A rs143159520 - CDS Synonymous[Leu323Leu]
1291 .. 1291 T/G rs147552979 - CDS Nonsynonymous[Phe336Cys]
1304 .. 1304 T/G rs150181582 - CDS Synonymous[Thr340Thr]
1307 .. 1307 A/G rs139334603 - CDS Synonymous[Glu341Glu]
1327 .. 1327 T/A rs141559171 - CDS AA-STOP[Leu348*]
1361 .. 1361 G/A rs199688019 - CDS Synonymous[Glu359Glu]
1391 .. 1391 C/T rs201521779 - CDS Synonymous[Ala369Ala]
1518 .. 1518 T/C rs140036159 - CDS Synonymous[Leu412Leu]
1538 .. 1538 T/C rs142746259 - CDS Synonymous[Tyr418Tyr]
1623 .. 1623 G/A rs144729350 - CDS Nonsynonymous[Val447Ile]
1685 .. 1685 T/C rs138565389 - CDS Synonymous[Gly467Gly]
1715 .. 1715 A/C rs2274230 + CDS Synonymous[Leu477Leu]
1852 .. 1852 A/G rs146942033 - CDS Nonsynonymous[His523Arg]
1898 .. 1898 G/A rs117218074 - CDS Synonymous[Thr538Thr]
1899 .. 1899 T/C rs147444465 - CDS Nonsynonymous[Cys539Arg]
1907 .. 1907 A/G rs201386260 - CDS Synonymous[Thr541Thr]
1974 .. 1974 A/G rs74413397 - 3'UTR
2052 .. 2052 A/G rs188393910 - 3'UTR
2072 .. 2072 C/T rs28913884 + 3'UTR
2073 .. 2073 G/A rs182761002 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
Type Start End Strand
MamRTE1 1322 1437 +
L1ME3A 1844 2137 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer