H-InvDB_8.3 released on March 26, 2013. 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

Home Quick guide Navi BLAST Site map Download Contact us Help

Locus view Protein view G-integra DiseaseInfo Viewer H-ANGEL Evola PPI view Gene Family/Group Hyperlink MS

H-Invitational ID: HIT000499484 Accession number: AK304860 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Similar to Epidermal growth factor receptor kinase substrate 8;

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

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 262 .. 262 G/C rs73317002 - 5'UTR 541 .. 541 A/G rs71532816 - CDS Nonsynonymous[His35Arg] 543 .. 543 G/T rs56750043 - CDS Nonsynonymous[Gly36Cys] 634 .. 634 G/A rs77383735 + CDS Nonsynonymous[Arg66His] 650 .. 650 T/C rs2230644 + CDS Synonymous[Thr71Thr] 715 .. 715 T/G rs112053540 - CDS Nonsynonymous[Leu93Trp] 954 .. 954 G/T rs78872942 + CDS Nonsynonymous[Ala173Ser] 994 .. 994 A/C rs12829975 - CDS Nonsynonymous[Asp186Ala] 1018 .. 1018 G/A rs12824115 - CDS Nonsynonymous[Arg194Lys] 1292 .. 1292 A/C rs71532817 - CDS Synonymous[Thr285Thr] 1312 .. 1312 A/T rs76714646 + CDS Nonsynonymous[Glu292Val] 1377 .. 1377 G/A rs79631530 + CDS Nonsynonymous[Gly314Ser] 1423 .. 1423 T/C rs79739141 + CDS Nonsynonymous[Leu329Pro] 1520 .. 1520 G/A rs76040570 + CDS Synonymous[Leu361Leu] 1667 .. 1667 A/G rs77418586 - CDS Synonymous[Gly410Gly] 1724 .. 1724 T/C rs33956726 - CDS Synonymous[Tyr429Tyr] 1757 .. 1757 A/C rs113632976 - CDS Synonymous[Pro440Pro] 1919 .. 1919 T/C rs75560906 + CDS Synonymous[Ser494Ser] 1992 .. 1992 C/T rs76688635 + CDS Nonsynonymous[Arg519Cys] 2090 .. 2090 G/A rs75362705 + CDS Synonymous[Ser551Ser] 2210 .. 2210 A/G rs112421433 - CDS Synonymous[Pro591Pro] 2246 .. 2246 T/C rs113435762 - CDS Synonymous[Thr603Thr] 2275 .. 2275 A/G rs74888964 + CDS Nonsynonymous[Tyr613Cys] 2315 .. 2315 T/A rs34393715 - CDS Synonymous[Pro626Pro] 2316 .. 2316 C/T rs71459188 - CDS Nonsynonymous[Pro627Ser] 2329 .. 2329 C/T rs17852724 - CDS Nonsynonymous[Ala631Val] 2508 .. 2508 A/G rs61729666 - CDS Nonsynonymous[Arg691Gly] 2534 .. 2534 T/C rs111934716 - 3'UTR 2548 .. 2548 G/A rs78763451 + 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;