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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.
 
 

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
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
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