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H-Invitational ID: HIT000243648 Accession number: AF519769 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Protein enabled homolog;

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

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 33 .. 33 C/T rs149362944 - 5'UTR 123 .. 123 G/C rs116481763 - 5'UTR 188 .. 188 C/T rs11558604 + 5'UTR 321 .. 321 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn] 328 .. 328 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser] 562 .. 562 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser] 587 .. 587 T/C rs146464464 - CDS Synonymous[His106His] 671 .. 671 C/T rs139065275 - CDS Synonymous[Gly134Gly] 698 .. 698 A/G rs148691501 - CDS Synonymous[Gln143Gln] 735 .. 735 C/A rs201023360 - CDS Nonsynonymous[Leu156Met] 742 .. 742 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln] 902 .. 902 G/A rs201432124 - CDS Synonymous[Glu211Glu] 912 .. 912 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys] 913 .. 913 G/A rs149587286 - CDS Nonsynonymous[Arg215His] 920 .. 920 G/A rs140432837 - CDS Synonymous[Glu217Glu] 930 .. 930 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys] 938 .. 938 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu] 939 .. 939 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp] 963 .. 963 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly] 986 .. 986 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp] 987 .. 987 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp] 1006 .. 1006 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly] 1028 .. 1028 G/A rs1340868 - CDS Synonymous[Arg253Arg] 1045 .. 1045 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly] 1063 .. 1063 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu] 1099 .. 1099 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro] 1159 .. 1159 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu] 1170 .. 1170 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala] 1197 .. 1197 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser] 1207 .. 1207 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu] 1211 .. 1211 A/C rs145188989 - CDS Synonymous[Pro314Pro] 1326 .. 1326 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala] 1445 .. 1445 T/G rs112734185 - CDS Synonymous[Leu392Leu] 1461 .. 1461 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg] 1462 .. 1462 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu] 1494 .. 1494 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn] 1498 .. 1498 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn] 1525 .. 1525 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr] 1588 .. 1588 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala] 1622 .. 1622 G/C rs147843407 - CDS Synonymous[Leu451Leu] 1654 .. 1654 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu] 1660 .. 1660 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys] 1661 .. 1661 A/G rs141466987 - CDS Synonymous[Thr464Thr] 1672 .. 1672 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly] 1674 .. 1674 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu] 1682 .. 1682 G/A rs146063337 - CDS Synonymous[Glu471Glu] 1743 .. 1743 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser] 1799 .. 1799 T/A rs143799748 - CDS Synonymous[Val510Val] 1801 .. 1801 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr] 1818 .. 1818 C/T rs191248485 - CDS Nonsynonymous[Pro517Ser] 1918 .. 1918 C/T rs141150172 - CDS Nonsynonymous[Thr550Met] 1986 .. 1986 C/T rs11556772 + CDS Synonymous[Leu573Leu] 1988 .. 1988 A/C rs144474730 - CDS Synonymous[Leu573Leu] 2005 .. 2005 A/G rs113170551 - CDS Nonsynonymous[Asp579Gly] 2040 .. 2040 G/A rs114476062 - CDS Nonsynonymous[Ala591Thr] 2049 .. 2049 A/G rs17501138 - 3'UTR 2068 .. 2068 G/T rs184878811 - 3'UTR 2219 .. 2219 T/A rs149348028 - 3'UTR 2267 .. 2267 A/T rs1054019 + 3'UTR 2286 .. 2286 T/C rs192876284 - 3'UTR 2347 .. 2347 G/A rs188405610 - 3'UTR 2531 .. 2531 A/G rs11556773 + 3'UTR 2550 .. 2550 A/G rs74147001 - 3'UTR 2652 .. 2652 A/G rs17560215 - 3'UTR 2702 .. 2702 T/A rs184404375 - 3'UTR 2780 .. 2780 A/G rs150637090 - 3'UTR 2958 .. 2958 C/T rs191886070 - 3'UTR 2980 .. 2980 G/T rs141743089 - 3'UTR 3019 .. 3019 G/A rs115933398 - 3'UTR 3122 .. 3122 A/G rs187787533 - 3'UTR 3159 .. 3159 T/C rs184670333 - 3'UTR 3225 .. 3225 A/G rs138086855 - 3'UTR 3297 ^ 3298 -/TA rs60677427 - 3'UTR 3299 ^ 3300 -/TA rs138532187 - 3'UTR 3729 .. 3729 G/A rs147011147 - 3'UTR 3891 .. 3891 C/T rs1044878 + 3'UTR 4058 .. 4058 T/C rs1062859 + 3'UTR 4062 ^ 4063 -/CAA rs71845502 - 3'UTR 4151 .. 4151 C/T rs10915844 - 3'UTR 4161 .. 4161 A/G rs142851338 - 3'UTR 4216 ^ 4217 -/G rs35840692 - 3'UTR 4232 .. 4232 C/T rs10915843 - 3'UTR 4309 .. 4309 C/T rs10915842 - 3'UTR 4337 .. 4337 T/A rs200251176 + 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  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;