Product Details

SNP ID
rs139004544
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:25881697 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTCTGCATCTGCTCAAAGAACTT[A/G]TAGGTTGGATTTTCGTAGCCGTTCT
Phenotype
MIM: 104760
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
APP PubMed Links

Gene Details

Gene
APP
Gene Name
amyloid beta precursor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000484.3 2375 Silent Mutation TAC,TAT Y762Y NP_000475.1
NM_001136016.3 2375 Silent Mutation TAC,TAT Y738Y NP_001129488.1
NM_001136129.2 2375 Silent Mutation TAC,TAT Y631Y NP_001129601.1
NM_001136130.2 2375 Silent Mutation TAC,TAT Y706Y NP_001129602.1
NM_001136131.2 2375 Silent Mutation TAC,TAT Y652Y NP_001129603.1
NM_001204301.1 2375 Silent Mutation TAC,TAT Y744Y NP_001191230.1
NM_001204302.1 2375 Silent Mutation TAC,TAT Y725Y NP_001191231.1
NM_001204303.1 2375 Silent Mutation TAC,TAT Y669Y NP_001191232.1
NM_201413.2 2375 Silent Mutation TAC,TAT Y743Y NP_958816.1
NM_201414.2 2375 Silent Mutation TAC,TAT Y687Y NP_958817.1

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