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H-InvDB_9.0 released on May 27, 2015.
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H-Inv protein ID: HIP000054604 Last modified: 27-May-2015
Definition: Gamma-secretase subunit APH-1A; APH-1a; Aph-1alpha; Presenilin-stabilization factor;
[Protein Info][Member][Motif] 
provide location, ID and descriptions of functional motifs (InterPro)[Function] 
provide human-curated functional definition, similarity
category and related evidences;  Gene name; 
HUGO gene symbols; GO term; EC number; pathway information (KEGG)[PTM][Subcellular loc.] 
provide subcellular localization prediction by WolfPSORT, Target P, SOSUI, TMHMM and PTS1[Protein Structure][Evolutionary info.] 
provide orthologs relationships, phylogenic trees and sequence alignments[Polymorphism/repeat] 
provide polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Translation polymorphism (SNP) and microsatellite (STR) information

Single Nucleotide Polymorphism (SNP) and indel VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
200..200 C/T rs201630308 - CDS Nonsynonymous[Ala4Val]
218..218 C/T rs11548266 + CDS Nonsynonymous[Thr10Ile]
225..225 C/G rs200745916 - CDS Synonymous[Val12Val]
226..226 G/A rs199961673 - CDS Nonsynonymous[Ala13Thr]
237..237 G/T rs201823216 - CDS Synonymous[Pro16Pro]
240..240 C/T rs112321698 - CDS Synonymous[Ala17Ala]
325..325 C/T rs1132746 + CDS Synonymous[Leu46Leu]
331..331 C/T rs200730753 - CDS Synonymous[Leu48Leu]
340..340 G/A rs199775906 - CDS Nonsynonymous[Val51Met]
441..441 G/A rs201613749 - CDS Synonymous[Glu84Glu]
495..495 A/G rs199977984 - CDS Synonymous[Ala102Ala]
564..564 C/T rs201257450 - CDS Synonymous[Phe125Phe]
699..699 C/T rs202221454 - CDS Synonymous[Leu170Leu]
726..726 T/C rs201620153 - CDS Synonymous[Phe179Phe]
770..770 T/C rs200325781 - CDS Nonsynonymous[Val194Ala]
780..780 C/T rs202029718 - CDS Synonymous[His197His]
789..789 A/T rs201096173 - CDS Synonymous[Thr200Thr]
792..792 G/T rs201219308 - CDS Synonymous[Ser201Ser]
795..795 A/C rs2275778 - CDS Synonymous[Gly202Gly]
796..796 C/T rs201939644 - CDS Synonymous[Leu203Leu]
804..804 C/T rs199803918 - CDS Synonymous[Phe205Phe]
840..840 C/T rs9658939 - CDS Synonymous[Ile217Ile]
867..867 C/T rs9658936 - CDS Synonymous[Leu226Leu]
895..895 C/A rs17849449 - CDS Nonsynonymous[Leu236Ile]
913..913 A/T rs200511495 - CDS Nonsynonymous[Ser242Cys]
924..924 C/G rs74126634 - CDS Nonsynonymous[Cys245Trp]
944..944 G/C/A rs71622685 - CDS
946..946 G/A rs201553051 - CDS Nonsynonymous[Val253Met]
Microsatellite (Short Tandem Repeat, STR)
No data available
Related H-InvDB links
VaryGeneVaryGene ;
Protein view