Product Details

SNP ID
rs1801951
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219374314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCAATCCACTAAGAGATTATGG[C/G]TTAGAGAAGGGAACAGCTCAAAGAA
Phenotype
MIM: 611367
Polymorphism
C/G, Transversion 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 1474 Missense Mutation ACC,AGC T487S NP_001306045.1
NM_001319117.1 1474 Missense Mutation ACC,AGC T451S NP_001306046.1
NM_001319118.1 1474 Missense Mutation ACC,AGC T465S NP_001306047.1
NM_001319119.1 1474 Missense Mutation ACC,AGC T465S NP_001306048.1
NM_001319120.1 1474 Missense Mutation ACC,AGC T443S NP_001306049.1
NM_001319121.1 1474 Missense Mutation ACC,AGC T426S NP_001306050.1
NM_001319122.1 1474 Missense Mutation ACC,AGC T426S NP_001306051.1
NM_012100.3 1474 Missense Mutation ACC,AGC T479S NP_036232.2

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