Product Details

SNP ID
rs186512962
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219374905 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCCTGTGGTGCAGGCCATCTCCC[A/G]GATAGAGTGCATGGCCAGTTGGGGG
Phenotype
MIM: 611367
Polymorphism
A/G, 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 1395 Missense Mutation CGG,TGG R461W NP_001306045.1
NM_001319117.1 1395 Missense Mutation CGG,TGG R425W NP_001306046.1
NM_001319118.1 1395 Missense Mutation CGG,TGG R439W NP_001306047.1
NM_001319119.1 1395 Missense Mutation CGG,TGG R439W NP_001306048.1
NM_001319120.1 1395 Missense Mutation CGG,TGG R417W NP_001306049.1
NM_001319121.1 1395 Missense Mutation CGG,TGG R400W NP_001306050.1
NM_001319122.1 1395 Missense Mutation CGG,TGG R400W NP_001306051.1
NM_012100.3 1395 Missense Mutation CGG,TGG R453W NP_036232.2

View Full Product Details