Product Details

SNP ID
rs201729253
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219374328 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGATTATGGCTTAGAGAAGGGAA[C/T]AGCTCAAAGAAGCCCTATAATGGGA
Phenotype
MIM: 611367
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DNPEP PubMed Links

Gene Details

Gene
DNPEP
Gene Name
aspartyl aminopeptidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319116.1 1460 Silent Mutation CTA,CTG L482L NP_001306045.1
NM_001319117.1 1460 Silent Mutation CTA,CTG L446L NP_001306046.1
NM_001319118.1 1460 Silent Mutation CTA,CTG L460L NP_001306047.1
NM_001319119.1 1460 Silent Mutation CTA,CTG L460L NP_001306048.1
NM_001319120.1 1460 Silent Mutation CTA,CTG L438L NP_001306049.1
NM_001319121.1 1460 Silent Mutation CTA,CTG L421L NP_001306050.1
NM_001319122.1 1460 Silent Mutation CTA,CTG L421L NP_001306051.1
NM_012100.3 1460 Silent Mutation CTA,CTG L474L NP_036232.2

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