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H-Invitational ID: HIT000261801 Accession number: BC065238 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Protein enabled homolog isoform a.

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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 164 .. 164 A/G rs141332414 - CDS Nonsynonymous[Asn55Ser] 189 .. 189 T/C rs146464464 - CDS Synonymous[His63His] 273 .. 273 C/T rs139065275 - CDS Synonymous[Gly91Gly] 300 .. 300 A/G rs148691501 - CDS Synonymous[Gln100Gln] 337 .. 337 C/A rs201023360 - CDS Nonsynonymous[Leu113Met] 344 .. 344 G/A rs143642798 - CDS Nonsynonymous[Arg115Gln] 504 .. 504 G/A rs201432124 - CDS Synonymous[Glu168Glu] 514 .. 514 C/T rs138096201 - CDS Nonsynonymous[Arg172Cys] 515 .. 515 G/A rs149587286 - CDS Nonsynonymous[Arg172His] 522 .. 522 G/A rs140432837 - CDS Synonymous[Glu174Glu] 532 .. 532 C/T rs148381397 - CDS Nonsynonymous[Arg178Cys] 540 .. 540 T/A rs2785204 - CDS Nonsynonymous[Asp180Glu] 541 .. 541 C/T rs141364661 - CDS Nonsynonymous[Arg181Trp] 565 .. 565 C/G rs200650081 - CDS Nonsynonymous[Arg189Gly] 588 .. 588 A/T rs201461224 - CDS Nonsynonymous[Glu196Asp] 589 .. 589 C/T rs142024814 - CDS Nonsynonymous[Arg197Trp] 608 .. 608 A/G rs199518908 - CDS Nonsynonymous[Glu203Gly] 630 .. 630 G/A rs1340868 - CDS Synonymous[Arg210Arg] 647 .. 647 A/G rs201871225 - CDS Nonsynonymous[Glu216Gly] 665 .. 665 C/T rs150540046 - CDS Nonsynonymous[Ser222Leu] 701 .. 701 T/C rs147227325 - CDS Nonsynonymous[Leu234Pro] 761 .. 761 C/T rs147401807 - CDS Nonsynonymous[Pro254Leu] 772 .. 772 C/G rs143810413 - CDS Nonsynonymous[Pro258Ala] 799 .. 799 C/T rs200278281 - CDS Nonsynonymous[Pro267Ser] 809 .. 809 C/T rs149359910 - CDS Nonsynonymous[Pro270Leu] 813 .. 813 A/C rs145188989 - CDS Synonymous[Pro271Pro] 928 .. 928 C/G rs201016572 - CDS Nonsynonymous[Pro310Ala] 1047 .. 1047 T/G rs112734185 - CDS Synonymous[Leu349Leu] 1063 .. 1063 G/A rs143052362 - CDS Nonsynonymous[Gly355Arg] 1064 .. 1064 G/A rs145797306 - CDS Nonsynonymous[Gly355Glu] 1096 .. 1096 G/A rs151173302 - CDS Nonsynonymous[Asp366Asn] 1100 .. 1100 C/A rs149039693 - CDS Nonsynonymous[Thr367Asn] 1127 .. 1127 T/C rs75136619 - CDS Nonsynonymous[Ile376Thr] 1190 .. 1190 G/C rs139773212 - CDS Nonsynonymous[Gly397Ala] 1224 .. 1224 G/C rs147843407 - CDS Synonymous[Leu408Leu] 1256 .. 1256 G/A rs150858944 - CDS Nonsynonymous[Gly419Glu] 1262 .. 1262 C/A rs75986582 - CDS Nonsynonymous[Thr421Lys] 1263 .. 1263 A/G rs141466987 - CDS Synonymous[Thr421Thr] 1274 .. 1274 A/G rs113271908 - CDS Nonsynonymous[Glu425Gly] 1276 .. 1276 C/G rs77211786 - CDS Nonsynonymous[Gln426Glu] 1284 .. 1284 G/A rs146063337 - CDS Synonymous[Glu428Glu] 1345 .. 1345 C/T rs189813142 - CDS Nonsynonymous[Pro449Ser] 1401 .. 1401 T/A rs143799748 - CDS Synonymous[Val467Val] 1403 .. 1403 T/C rs149413176 - CDS Nonsynonymous[Ile468Thr] 1457 .. 1457 C/T rs141150172 - CDS Nonsynonymous[Thr486Met] 1525 .. 1525 C/T rs11556772 + CDS Synonymous[Leu509Leu] 1527 .. 1527 A/C rs144474730 - CDS Synonymous[Leu509Leu] 1544 .. 1544 A/G rs113170551 - CDS Nonsynonymous[Asp515Gly] 1579 .. 1579 G/A rs114476062 - CDS Nonsynonymous[Ala527Thr] 1588 .. 1588 A/G rs17501138 - 3'UTR 1607 .. 1607 G/T rs184878811 - 3'UTR 1758 .. 1758 T/A rs149348028 - 3'UTR 1806 .. 1806 A/T rs1054019 + 3'UTR 1825 .. 1825 T/C rs192876284 - 3'UTR 1886 .. 1886 G/A rs188405610 - 3'UTR 2070 .. 2070 A/G rs11556773 + 3'UTR 2089 .. 2089 A/G rs74147001 - 3'UTR 2191 .. 2191 A/G rs17560215 - 3'UTR 2241 .. 2241 T/A rs184404375 - 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;