Product Details

SNP ID
rs190795420
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47596429 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATGAATACCTGGACCAAACAAAT[C/G]GGATTTCCCCTCATTTATGTGGAAG
Phenotype
MIM: 606793
Polymorphism
C/G, Transversion 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 1688 Missense Mutation ATC,ATG I501M NP_006301.3
XM_011525496.1 1688 Missense Mutation ATC,ATG I497M XP_011523798.1
XM_017025372.1 1688 Missense Mutation ATC,ATG I501M XP_016880861.1
XM_017025373.1 1688 Missense Mutation ATC,ATG I497M XP_016880862.1

View Full Product Details