Product Details

SNP ID
rs199627398
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47599693 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTTAGGTAGAAGATGACAGATT[A/G]TTGAGGTTGTCCCAAAAGAAGTTCT
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 1739 Silent Mutation TTA,TTG L518L NP_006301.3
XM_011525496.1 1739 Silent Mutation TTA,TTG L514L XP_011523798.1
XM_017025372.1 1739 Silent Mutation TTA,TTG L518L XP_016880861.1
XM_017025373.1 1739 Silent Mutation TTA,TTG L514L XP_016880862.1

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