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H-Invitational ID: HIT000502961 Accession number: BC144555 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Mitogen-activated protein kinase kinase kinase 19; EC=2.7.11.1; Regulated in COPD, protein kinase; SPS1/STE20-related protein kinase YSK4;
 
 

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
112 .. 112 T/C rs147672857 - CDS Synonymous[Leu28Leu]
125 .. 125 C/A rs75648600 - CDS Nonsynonymous[Thr32Asn]
185 .. 185 G/A rs147635402 - CDS Nonsynonymous[Gly52Asp]
237 .. 237 T/C rs113061226 - CDS Synonymous[Gly69Gly]
286 .. 286 T/C rs151183639 - CDS Nonsynonymous[Phe86Leu]
330 .. 330 C/G rs148040063 - CDS Nonsynonymous[Asp100Glu]
365 .. 365 A/C rs201841965 - CDS Nonsynonymous[Gln112Pro]
402 .. 402 T/C rs145950712 - CDS Synonymous[Asn124Asn]
406 .. 406 A/T rs6715812 - CDS Nonsynonymous[Ile126Leu]
413 .. 413 C/T rs151112282 - CDS Nonsynonymous[Thr128Met]
445 .. 445 C/T rs141899370 - CDS Nonsynonymous[Arg139Trp]
446 .. 446 G/A rs147043490 - CDS Nonsynonymous[Arg139Gln]
455 .. 455 T/A rs190387950 - CDS Nonsynonymous[Val142Asp]
458 .. 458 T/A rs138992614 - CDS AA-STOP[Leu143*]
468 .. 468 G/A rs113569095 - CDS Synonymous[Glu146Glu]
534 .. 534 G/A rs6754977 - CDS Synonymous[Leu168Leu]
558 .. 558 A/G rs146453631 - CDS Synonymous[Arg176Arg]
571 .. 571 C/T rs150706097 - CDS Nonsynonymous[His181Tyr]
742 .. 742 C/T rs192434665 - CDS Nonsynonymous[Arg238Trp]
887 .. 887 G/A rs56349597 - CDS Nonsynonymous[Arg286His]
927 .. 927 G/A rs200267339 - CDS Synonymous[Thr299Thr]
975 .. 975 A/C rs201993219 - CDS Synonymous[Val315Val]
979 .. 979 C/T rs142199742 - CDS Nonsynonymous[Arg317Cys]
980 .. 980 G/A rs145092752 - CDS Nonsynonymous[Arg317His]
1019 .. 1019 G/A rs145246801 - CDS Nonsynonymous[Gly330Glu]
1022 .. 1022 T/C rs56284052 - CDS Nonsynonymous[Ile331Thr]
1048 .. 1048 G/T rs200326947 - CDS Nonsynonymous[Ala340Ser]
1162 .. 1162 C/T rs139473560 - CDS Nonsynonymous[Arg378Trp]
1232 .. 1232 C/T rs147832465 - CDS Nonsynonymous[Ser401Phe]
1240 .. 1240 A/G rs140447534 - CDS Nonsynonymous[Arg404Gly]
1263 .. 1263 C/T rs149473090 - CDS Synonymous[Ile411Ile]
1271 .. 1271 A/G rs186711668 - CDS Nonsynonymous[His414Arg]
1353 .. 1353 G/C rs150711518 - CDS Nonsynonymous[Gln441His]
1394 ^ 1395 -/G rs34667488 - CDS
1404 .. 1404 A/T rs142282210 - CDS Nonsynonymous[Arg458Ser]
1419 .. 1419 C/T rs187643783 - 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
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer