H-InvDB x AHG DB
Transcript view
H-InvDB_9.0 released on May 27, 2015.
Search by for Advanced Search
Home Quick guide Navi BLAST Site map Download Contact us Help
H-Invitational ID: HIT000030868 Accession number: BC002406 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; EC=1.2.4.1; PDHE1-A type I; Precursor;
 
 

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
49 .. 49 C/T rs76809608 + 5'UTR
86 .. 86 G/C rs137853257 + CDS Nonsynonymous[Arg10Pro]
154 .. 154 G/C rs150318528 + CDS Nonsynonymous[Asp33His]
191 .. 191 G/A rs144967854 + CDS Nonsynonymous[Arg45Gln]
227 .. 227 C/G rs149083818 + CDS Nonsynonymous[Thr57Ser]
309 .. 309 G/A rs144828838 + CDS Synonymous[Gln84Gln]
394 .. 394 C/T rs11554111 + CDS Nonsynonymous[His113Tyr]
420 .. 420 C/T rs183170654 + CDS Synonymous[His121His]
436 .. 436 C/T rs199959402 + CDS Nonsynonymous[Arg127Trp]
463 .. 463 G/A rs138727886 + CDS Nonsynonymous[Ala136Thr]
564 .. 564 G/A rs141862527 + CDS Synonymous[Ala169Ala]
672 .. 672 C/G rs137853254 + CDS Nonsynonymous[Phe205Leu]
705 .. 705 A/C rs121917898 + CDS Nonsynonymous[Leu216Phe]
717 .. 717 C/T rs145621243 + CDS Synonymous[Phe220Phe]
750 .. 750 G/A rs138237215 + CDS Synonymous[Thr231Thr]
784 .. 784 T/A rs137853255 + CDS Nonsynonymous[Tyr243Asn]
830 .. 830 A/C rs137853253 + CDS Nonsynonymous[Asp258Ala]
841 .. 841 G/A rs202166915 + CDS Nonsynonymous[Val262Ile]
844 .. 844 C/G rs137853259 + CDS Nonsynonymous[Arg263Gly]
852 .. 852 A/C/G rs1126565 + CDS
855 .. 855 A/G rs35752213 + CDS Synonymous[Thr266Thr]
901 .. 901 A/C rs2229137 + CDS Nonsynonymous[Met282Leu]
920 .. 920 G/A rs137853258 + CDS Nonsynonymous[Arg288His]
961 .. 961 C/T rs137853252 + CDS Nonsynonymous[Arg302Cys]
984 .. 984 A/C rs200088791 + CDS Nonsynonymous[Glu309Asp]
1000 .. 1000 G/A rs137853256 + CDS Nonsynonymous[Asp315Asn]
1056 .. 1056 A/C rs2228067 + CDS Nonsynonymous[Glu333Asp]
1119 .. 1119 G/T rs147510382 + CDS Synonymous[Thr354Thr]
1171 .. 1171 G/A rs199879809 + CDS Nonsynonymous[Asp372Asn]
1190 .. 1190 G/A rs137853250 + CDS Nonsynonymous[Arg378His]
1216 .. 1216 A/C rs201156613 + CDS Nonsynonymous[Lys387Gln]
1245 .. 1245 G/C rs200547574 + 3'UTR
1269 .. 1269 C/T rs111666443 + 3'UTR
1312 .. 1312 C/T rs11554112 - 3'UTR
1320 .. 1320 T/A rs147338122 + 3'UTR
1340 .. 1340 C/T rs709610 + 3'UTR
1343 .. 1343 C/G rs182754597 + 3'UTR
1364 .. 1364 C/A rs187360934 + 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