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H-Invitational ID: HIT000035425 Accession number: BC011752 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Methyl-CpG-binding domain protein 4; EC=3.2.2.-; Methyl-CpG-binding endonuclease 1; Methyl-CpG-binding protein MBD4; Mismatch-specific DNA N-glycosylase;
 
 

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
53 .. 53 A/G rs150778761 - CDS Nonsynonymous[Thr4Ala]
65 .. 65 A/G rs143075296 - CDS Nonsynonymous[Ser8Gly]
74 .. 74 C/T rs2307297 + CDS Synonymous[Leu11Leu]
154 .. 154 A/T rs200224645 - CDS Nonsynonymous[Glu37Asp]
179 .. 179 G/A rs200883484 - CDS Nonsynonymous[Val46Met]
182 .. 182 G/A rs147232960 - CDS Nonsynonymous[Gly47Arg]
224 .. 224 T/C rs2307296 + CDS Nonsynonymous[Cys61Arg]
260 .. 260 C/G rs148098584 - CDS Nonsynonymous[Gln73Glu]
272 .. 272 A/G rs143811380 - CDS Nonsynonymous[Thr77Ala]
362 .. 362 G/T rs201697944 - CDS Nonsynonymous[Asp107Tyr]
379 .. 379 C/T rs61753468 - CDS Synonymous[Ser112Ser]
390 .. 390 T/G rs200082149 - CDS Nonsynonymous[Leu116Arg]
407 ^ 408 -/A rs34275677 - CDS
411 .. 411 C/T rs201341528 - CDS Nonsynonymous[Ser123Leu]
446 .. 446 T/G rs200851180 - CDS Nonsynonymous[Ser135Ala]
458 .. 458 G/C rs186316895 - CDS Nonsynonymous[Glu139Gln]
478 .. 478 A/G rs199785676 - CDS Synonymous[Val145Val]
508 .. 508 T/C rs138876144 - CDS Synonymous[Tyr155Tyr]
526 .. 526 A/T rs142605003 - CDS Synonymous[Ala161Ala]
558 .. 558 A/G rs145116757 - CDS Nonsynonymous[Asn172Ser]
585 .. 585 G/A rs180996357 - CDS Nonsynonymous[Arg181Gln]
611 .. 611 A/T rs140265312 - CDS Nonsynonymous[Met190Leu]
615 .. 615 C/T rs148464573 - CDS Nonsynonymous[Pro191Leu]
616 .. 616 G/A rs201684514 - CDS Synonymous[Pro191Pro]
694 .. 694 T/C rs201331346 - CDS Synonymous[Asp217Asp]
710 .. 710 G/A rs143317948 - CDS Nonsynonymous[Val223Ile]
723 .. 723 A/G rs199828331 - CDS Nonsynonymous[Lys227Arg]
725 .. 725 G/C rs140696334 - CDS Nonsynonymous[Val228Leu]
726 .. 726 T/A rs150940003 - CDS Nonsynonymous[Val228Asp]
745 .. 745 G/A rs78797976 - CDS Synonymous[Lys234Lys]
750 .. 750 C/T rs142668030 - CDS Nonsynonymous[Thr236Ile]
755 .. 755 T/C rs79326124 - CDS Synonymous[Leu238Leu]
860 .. 860 G/A/T rs10342 + CDS
882 .. 882 A/T rs200642994 - CDS Nonsynonymous[Gln280Leu]
883 .. 883 A/G rs147394477 - CDS Synonymous[Gln280Gln]
1067 .. 1067 T/C rs2307289 + CDS Nonsynonymous[Ser342Pro]
1079 .. 1079 G/A rs140693 + CDS Nonsynonymous[Glu346Lys]
1115 .. 1115 A/T rs147270686 - CDS Nonsynonymous[Ile358Phe]
1116 .. 1116 T/C rs2307298 + CDS Nonsynonymous[Ile358Thr]
1117 .. 1117 C/T rs139242730 - CDS Synonymous[Ile358Ile]
1151 .. 1151 C/T rs150831027 - CDS Nonsynonymous[His370Tyr]
1175 .. 1175 C/T rs149311534 - CDS Nonsynonymous[Arg378Cys]
1202 .. 1202 T/G rs141556272 - CDS Nonsynonymous[Ser387Ala]
1203 .. 1203 C/T rs200169155 - CDS Nonsynonymous[Ser387Leu]
1220 .. 1220 T/A rs188172372 - CDS Nonsynonymous[Phe393Ile]
1249 .. 1249 G/A rs3138351 + CDS Synonymous[Gln402Gln]
1262 .. 1262 A/G rs200315861 - CDS Nonsynonymous[Lys407Glu]
1264 .. 1264 A/G rs201351149 - CDS Synonymous[Lys407Lys]
1265 .. 1265 A/G rs202188508 - CDS Nonsynonymous[Thr408Ala]
1287 .. 1287 A/G rs147756381 - CDS Nonsynonymous[Lys415Arg]
1311 .. 1311 C/T rs148378664 - CDS Nonsynonymous[Pro423Leu]
1320 .. 1320 G/A rs200137916 - CDS Nonsynonymous[Arg426His]
1350 .. 1350 G/A rs200995882 - CDS Nonsynonymous[Arg436Gln]
1408 .. 1408 C/T rs201776693 - CDS Synonymous[Ile455Ile]
1425 .. 1425 A/G rs78782061 - CDS Nonsynonymous[Asn461Ser]
1438 .. 1438 C/T rs140696 + CDS Synonymous[Gly465Gly]
1578 .. 1578 A/G rs138445306 - CDS Nonsynonymous[Lys512Arg]
1597 .. 1597 G/A rs144657741 - CDS Synonymous[Leu518Leu]
1619 .. 1619 A/G rs183820888 - CDS Nonsynonymous[Ile526Val]
1623 .. 1623 A/T rs191518400 - CDS Nonsynonymous[Glu527Val]
1633 .. 1633 G/A rs2005619 + CDS Synonymous[Gly530Gly]
1638 .. 1638 G/A rs202021161 - CDS Nonsynonymous[Gly532Asp]
1702 .. 1702 A/G rs2307286 + CDS Synonymous[Glu553Glu]
1713 .. 1713 T/A rs200758755 - CDS AA-STOP[Leu557*]
1727 .. 1727 G/C rs2307293 + CDS Nonsynonymous[Asp562His]
1804 .. 1804 C/T rs180861060 - 3'UTR
1888 .. 1888 G/A rs190790404 - 3'UTR
1968 .. 1968 A/T rs185483849 - 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