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H-Invitational ID: HIT000335274 Accession number: BC095481 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 216 .. 216 C/T rs149362944 - 5'UTR 306 .. 306 G/C rs116481763 - 5'UTR 371 .. 371 C/T rs11558604 + 5'UTR 504 .. 504 G/A rs201973976 - CDS Nonsynonymous[Asp18Asn] 511 .. 511 A/G rs149009967 - CDS Nonsynonymous[Asn20Ser] 745 .. 745 A/G rs141332414 - CDS Nonsynonymous[Asn98Ser] 770 .. 770 T/C rs146464464 - CDS Synonymous[His106His] 854 .. 854 C/T rs139065275 - CDS Synonymous[Gly134Gly] 881 .. 881 A/G rs148691501 - CDS Synonymous[Gln143Gln] 918 .. 918 C/A rs201023360 - CDS Nonsynonymous[Leu156Met] 925 .. 925 G/A rs143642798 - CDS Nonsynonymous[Arg158Gln] 1085 .. 1085 G/A rs201432124 - CDS Synonymous[Glu211Glu] 1095 .. 1095 C/T rs138096201 - CDS Nonsynonymous[Arg215Cys] 1096 .. 1096 G/A rs149587286 - CDS Nonsynonymous[Arg215His] 1103 .. 1103 G/A rs140432837 - CDS Synonymous[Glu217Glu] 1113 .. 1113 C/T rs148381397 - CDS Nonsynonymous[Arg221Cys] 1121 .. 1121 T/A rs2785204 - CDS Nonsynonymous[Asp223Glu] 1122 .. 1122 C/T rs141364661 - CDS Nonsynonymous[Arg224Trp] 1146 .. 1146 C/G rs200650081 - CDS Nonsynonymous[Arg232Gly] 1169 .. 1169 A/T rs201461224 - CDS Nonsynonymous[Glu239Asp] 1170 .. 1170 C/T rs142024814 - CDS Nonsynonymous[Arg240Trp] 1189 .. 1189 A/G rs199518908 - CDS Nonsynonymous[Glu246Gly] 1211 .. 1211 A/G rs1340868 - CDS Synonymous[Arg253Arg] 1228 .. 1228 A/G rs201871225 - CDS Nonsynonymous[Glu259Gly] 1246 .. 1246 C/T rs150540046 - CDS Nonsynonymous[Ser265Leu] 1282 .. 1282 T/C rs147227325 - CDS Nonsynonymous[Leu277Pro] 1342 .. 1342 C/T rs147401807 - CDS Nonsynonymous[Pro297Leu] 1353 .. 1353 C/G rs143810413 - CDS Nonsynonymous[Pro301Ala] 1380 .. 1380 C/T rs200278281 - CDS Nonsynonymous[Pro310Ser] 1390 .. 1390 C/T rs149359910 - CDS Nonsynonymous[Pro313Leu] 1394 .. 1394 A/C rs145188989 - CDS Synonymous[Pro314Pro] 1509 .. 1509 C/G rs201016572 - CDS Nonsynonymous[Pro353Ala] 1628 .. 1628 T/G rs112734185 - CDS Synonymous[Leu392Leu] 1644 .. 1644 G/A rs143052362 - CDS Nonsynonymous[Gly398Arg] 1645 .. 1645 G/A rs145797306 - CDS Nonsynonymous[Gly398Glu] 1677 .. 1677 G/A rs151173302 - CDS Nonsynonymous[Asp409Asn] 1681 .. 1681 C/A rs149039693 - CDS Nonsynonymous[Thr410Asn] 1708 .. 1708 T/C rs75136619 - CDS Nonsynonymous[Ile419Thr] 1771 .. 1771 G/C rs139773212 - CDS Nonsynonymous[Gly440Ala] 1805 .. 1805 G/C rs147843407 - CDS Synonymous[Leu451Leu] 1837 .. 1837 G/A rs150858944 - CDS Nonsynonymous[Gly462Glu] 1843 .. 1843 C/A rs75986582 - CDS Nonsynonymous[Thr464Lys] 1844 .. 1844 A/G rs141466987 - CDS Synonymous[Thr464Thr] 1855 .. 1855 A/G rs113271908 - CDS Nonsynonymous[Glu468Gly] 1857 .. 1857 C/G rs77211786 - CDS Nonsynonymous[Gln469Glu] 1865 .. 1865 G/A rs146063337 - CDS Synonymous[Glu471Glu] 1926 .. 1926 C/T rs189813142 - CDS Nonsynonymous[Pro492Ser] 1982 .. 1982 T/A rs143799748 - CDS Synonymous[Val510Val] 1984 .. 1984 T/C rs149413176 - CDS Nonsynonymous[Ile511Thr] 2001 .. 2001 C/T rs191248485 - CDS Nonsynonymous[Pro517Ser] 2101 .. 2101 C/T rs141150172 - CDS Nonsynonymous[Thr550Met] 2169 .. 2169 C/T rs11556772 + CDS Synonymous[Leu573Leu] 2171 .. 2171 A/C rs144474730 - CDS Synonymous[Leu573Leu] 2188 .. 2188 A/G rs113170551 - CDS Nonsynonymous[Asp579Gly] 2223 .. 2223 G/A rs114476062 - CDS Nonsynonymous[Ala591Thr] 2232 .. 2232 G/A rs17501138 - 3'UTR 2251 .. 2251 G/T rs184878811 - 3'UTR 2402 .. 2402 T/A rs149348028 - 3'UTR 2450 .. 2450 A/T rs1054019 + 3'UTR 2469 .. 2469 T/C rs192876284 - 3'UTR 2530 .. 2530 G/A rs188405610 - 3'UTR 2714 .. 2714 A/G rs11556773 + 3'UTR 2733 .. 2733 A/G rs74147001 - 3'UTR 2835 .. 2835 G/A rs17560215 - 3'UTR 2885 .. 2885 T/A rs184404375 - 3'UTR 2963 .. 2963 A/G rs150637090 - 3'UTR 3143 .. 3143 C/T rs191886070 - 3'UTR 3165 .. 3165 G/T rs141743089 - 3'UTR 3204 .. 3204 G/A rs115933398 - 3'UTR 3307 .. 3307 A/G rs187787533 - 3'UTR 3344 .. 3344 T/C rs184670333 - 3'UTR 3410 .. 3410 A/G rs138086855 - 3'UTR 3482 ^ 3483 -/TA rs60677427 - 3'UTR 3484 ^ 3485 -/TA rs138532187 - 3'UTR 3914 .. 3914 G/A rs147011147 - 3'UTR 4076 .. 4076 C/T rs1044878 + 3'UTR 4243 .. 4243 T/C rs1062859 + 3'UTR 4247 ^ 4248 -/CAA rs71845502 - 3'UTR 4336 .. 4336 C/T rs10915844 - 3'UTR 4346 .. 4346 A/G rs142851338 - 3'UTR 4401 ^ 4402 -/G rs35840692 - 3'UTR 4417 .. 4417 C/T rs10915843 - 3'UTR 4494 .. 4494 C/T rs10915842 - 3'UTR 4522 .. 4522 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;