H-InvDB_9.0 released on May 27, 2015. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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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;

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Translation polymorphism (SNP) and microsatellite (STR) information

Single Nucleotide Polymorphism (SNP) and indel 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) Location Variation Strand No data available Related H-InvDB links VaryGene ;