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H-Invitational ID: HIT000101680 Accession number: D63412 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Aquaporin-4; AQP-4; Mercurial-insensitive water channel; MIWC; WCH4;
 
 

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
47 .. 47 G/T rs190801689 - CDS Synonymous[Arg9Arg]
63 .. 63 C/A rs199674181 - CDS Nonsynonymous[Pro15Thr]
76 .. 76 G/C rs150587304 - CDS Nonsynonymous[Arg19Thr]
100 .. 100 A/G rs141793428 - CDS Nonsynonymous[Lys27Arg]
120 .. 120 T/C rs201354429 - CDS Nonsynonymous[Phe34Leu]
139 .. 139 C/T rs200221507 - CDS Nonsynonymous[Ala40Val]
159 .. 159 A/C rs201582782 - CDS Nonsynonymous[Ile47Leu]
170 .. 170 C/T rs201758586 - CDS Synonymous[Leu50Leu]
173 .. 173 C/T rs148022306 - CDS Synonymous[Leu51Leu]
177 .. 177 C/T rs55839024 - CDS Synonymous[Leu53Leu]
178 .. 178 T/G rs55946817 - CDS Nonsynonymous[Leu53Arg]
199 .. 199 G/A rs200232760 - CDS Nonsynonymous[Gly60Asp]
221 .. 221 T/G rs35248760 - CDS Synonymous[Pro67Pro]
378 .. 378 G/C rs140271115 - CDS Nonsynonymous[Ala120Pro]
386 .. 386 G/A rs72557968 + CDS Synonymous[Gln122Gln]
401 .. 401 C/A rs144702688 - CDS Synonymous[Ile127Ile]
403 .. 403 T/C rs61731042 - CDS Nonsynonymous[Ile128Thr]
407 .. 407 A/G rs144914209 - CDS Synonymous[Gly129Gly]
426 .. 426 G/T rs200102632 - CDS Nonsynonymous[Val136Phe]
466 .. 466 T/C rs202114851 - CDS Nonsynonymous[Met149Thr]
500 .. 500 C/A rs150051046 - CDS Synonymous[Leu160Leu]
512 .. 512 G/A rs1839318 - CDS Synonymous[Leu164Leu]
564 .. 564 C/T rs151292719 - CDS Nonsynonymous[Arg182Trp]
565 .. 565 G/A rs187543361 - CDS Nonsynonymous[Arg182Gln]
572 .. 572 T/A rs61731038 - CDS Nonsynonymous[Asp184Glu]
586 .. 586 T/C rs140954190 - CDS Nonsynonymous[Ile189Thr]
598 .. 598 T/C rs61731037 - CDS Nonsynonymous[Ile193Thr]
609 .. 609 G/A rs145495511 - CDS Nonsynonymous[Val197Ile]
633 .. 633 A/C rs72557974 + CDS Nonsynonymous[Ile205Leu]
663 .. 663 G/A rs148498248 - CDS Nonsynonymous[Ala215Thr]
691 .. 691 T/C rs72557975 + CDS Nonsynonymous[Met224Thr]
710 .. 710 T/C rs72557976 + CDS Synonymous[His230His]
745 .. 745 T/C rs200115882 - CDS Nonsynonymous[Val242Ala]
754 .. 754 G/C rs201162228 - CDS Nonsynonymous[Gly245Ala]
798 .. 798 C/T rs201862553 - CDS Nonsynonymous[Arg260Cys]
802 .. 802 G/A rs149529726 - CDS Nonsynonymous[Arg261His]
814 .. 814 C/A rs200121613 - CDS Nonsynonymous[Ala265Asp]
839 .. 839 A/G rs72557972 + CDS Synonymous[Thr273Thr]
853 .. 853 T/C rs3906956 - CDS Nonsynonymous[Met278Thr]
856 .. 856 A/C rs199882615 - CDS Nonsynonymous[Glu279Ala]
914 .. 914 G/A rs73396660 - CDS Synonymous[Val298Val]
920 .. 920 T/A rs141721622 - CDS Nonsynonymous[His300Gln]
939 .. 939 G/A rs138721762 - CDS Nonsynonymous[Gly307Arg]
975 .. 975 G/A rs200498749 - CDS Nonsynonymous[Val319Ile]
1115 .. 1115 T/C rs145725871 - 3'UTR
1209 .. 1209 A/T rs9944962 - 3'UTR
1211 .. 1211 G/A rs1058423 + 3'UTR
1212 .. 1212 A/C rs72557977 + 3'UTR
1227 .. 1227 T/C rs187447118 - 3'UTR
1237 .. 1237 T/C rs9807747 - 3'UTR
1275 .. 1275 C/T rs72557978 + 3'UTR
1296 .. 1296 G/C rs72557979 + 3'UTR
1349 .. 1349 G/A rs3763043 + 3'UTR
1490 .. 1490 T/C rs142398969 - 3'UTR
1580 .. 1580 T/G rs335929 - 3'UTR
1622 .. 1622 T/A rs1058424 + 3'UTR
1642 ^ 1643 -/T rs35670019 - 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