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H-Invitational ID: HIT000039575 Accession number: BC022486 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Aquaporin-1; AQP-1; Aquaporin-CHIP; Urine water channel; Water channel protein for red blood cells and kidney proximal tubule;

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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 32 .. 32 G/A rs193214487 + 5'UTR 41 .. 41 C/T rs202016178 + 5'UTR 61 .. 61 G/A rs144950903 + CDS Nonsynonymous[Ala2Thr] 145 .. 145 G/A rs147526690 + CDS Nonsynonymous[Gly30Ser] 155 .. 155 T/C rs140172452 + CDS Nonsynonymous[Leu33Pro] 166 .. 166 T/C rs145372510 + CDS Nonsynonymous[Tyr37His] 170 .. 170 C/T rs104894004 + CDS Nonsynonymous[Pro38Leu] 190 .. 190 A/G rs17852043 + CDS Nonsynonymous[Thr45Ala] 191 .. 191 C/T rs28362692 + CDS Nonsynonymous[Thr45Met] 205 .. 205 G/A rs200496523 + CDS Nonsynonymous[Val50Met] 211 .. 211 G/C rs35115273 + CDS Nonsynonymous[Val52Leu] 216 .. 216 G/A rs200596948 + CDS Synonymous[Ser53Ser] 237 .. 237 C/T rs11537656 + CDS Synonymous[Ile60Ile] 242 .. 242 C/T rs199545971 + CDS Nonsynonymous[Thr62Met] 273 .. 273 C/T rs145002350 + CDS Synonymous[Gly72Gly] 274 .. 274 G/A rs140979736 + CDS Nonsynonymous[Ala73Thr] 288 .. 288 G/A rs112240167 + CDS Synonymous[Pro77Pro] 335 .. 335 G/A rs183830991 + CDS Nonsynonymous[Arg93His] 363 .. 363 C/T rs144761239 + CDS Synonymous[Cys102Cys] 376 .. 376 G/A rs35804488 + CDS Nonsynonymous[Val107Ile] 377 .. 377 T/G rs147400857 + CDS Nonsynonymous[Val107Gly] 400 .. 400 A/G rs143467679 + CDS Nonsynonymous[Ile115Val] 454 .. 454 G/A rs11537655 + CDS Nonsynonymous[Val133Met] 462 .. 462 G/A rs117434085 + CDS Synonymous[Ser135Ser] 513 .. 513 C/T rs28362730 + CDS Synonymous[Cys152Cys] 514 .. 514 G/A rs200906195 + CDS Nonsynonymous[Val153Met] 528 .. 528 C/T rs150107539 + CDS Synonymous[Thr157Thr] 538 .. 538 C/T rs201686828 + CDS Nonsynonymous[Arg161Cys] 551 .. 551 G/A rs28362731 + CDS Nonsynonymous[Gly165Asp] 560 .. 560 C/T rs200005344 + CDS Nonsynonymous[Ala168Val] 573 .. 573 C/T rs192670428 + CDS Synonymous[Ile172Ile] 624 .. 624 T/G rs202089489 + CDS Nonsynonymous[Cys189Trp] 639 .. 639 T/A rs143245268 + CDS Synonymous[Ala194Ala] 657 .. 657 G/A rs147503533 + CDS Synonymous[Ala200Ala] 657 .. 657 G/- rs199474670 + CDS 738 .. 738 C/T rs140239885 + CDS Synonymous[Tyr227Tyr] 798 .. 798 C/T rs199860979 + CDS Synonymous[Ser247Ser] 799 .. 799 G/A rs149637560 + CDS Nonsynonymous[Gly248Ser] 804 .. 804 G/C rs201414781 + CDS Nonsynonymous[Gln249His] 815 .. 815 A/G rs144238098 + CDS Nonsynonymous[Tyr253Cys] 891 .. 891 C/T rs200837934 + 3'UTR 912 .. 912 C/T rs140536387 + 3'UTR 919 ^ 920 -/GGGAG rs147211026 + 3'UTR 920 ^ 921 -/GGGAG rs67938970 + 3'UTR 922 ^ 923 -/AGGG rs67184369 + 3'UTR 923 ^ 924 -/AGGGG rs72463314 + 3'UTR 932 ^ 933 -/AGGGG rs28362739 + 3'UTR 1045 .. 1045 T/G rs180936597 + 3'UTR 1140 .. 1140 C/T rs202039962 + 3'UTR 1149 .. 1149 C/T rs78003203 + 3'UTR 1229 .. 1229 G/A rs28362740 + 3'UTR 1268 .. 1268 C/T rs28362741 + 3'UTR 1302 .. 1302 C/T rs113192043 + 3'UTR 1379 .. 1379 G/C/T rs28362742 + 3'UTR 1388 ^ 1389 -/C rs72393384 + 3'UTR 1392 .. 1392 T/C rs11537660 - 3'UTR 1445 .. 1445 G/C rs1049305 + 3'UTR 1512 .. 1512 A/G rs11537659 - 3'UTR 1566 .. 1566 G/A rs142345160 + 3'UTR 1714 .. 1714 C/A rs189828375 + 3'UTR 1757 .. 1757 T/A rs146357004 + 3'UTR 1768 .. 1768 C/T rs11537661 - 3'UTR 1928 .. 1928 A/G rs17159719 + 3'UTR 1996 .. 1996 C/T rs112314218 + 3'UTR 2201 .. 2201 A/C rs28362743 + 3'UTR 2355 .. 2355 G/T rs138231568 + 3'UTR 2506 .. 2506 T/C rs13600 + 3'UTR 2529 .. 2529 G/A rs117653819 + 3'UTR 2597 .. 2597 G/A rs1049348 + 3'UTR 2644 .. 2644 C/T rs1049352 + 3'UTR  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 MamTip2 1160 1265 + MIR3 1386 1494 + MamRTE1 1920 1968 + MIRc 2410 2451 - MIR3 2424 2452 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;