Product Details

SNP ID
rs200634700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47596394 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAGAAAATGCTAGTGGTAAACCT[A/G]TAGCAGCTGTGATGAATACCTGGAC
Phenotype
MIM: 606793
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NPEPPS PubMed Links

Gene Details

Gene
NPEPPS
Gene Name
aminopeptidase puromycin sensitive
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006310.3 1653 Missense Mutation ATA,GTA I490V NP_006301.3
XM_011525496.1 1653 Missense Mutation ATA,GTA I486V XP_011523798.1
XM_017025372.1 1653 Missense Mutation ATA,GTA I490V XP_016880861.1
XM_017025373.1 1653 Missense Mutation ATA,GTA I486V XP_016880862.1

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