Product Details

SNP ID
rs78280744
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:25881687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGGGTCTAGTTCTGCATCTGCT[A/C]AAAGAACTTGTAGGTTGGATTTTCG
Phenotype
MIM: 104760
Polymorphism
A/C, Transversion 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 2385 Nonsense Mutation GAG,TAG E766* NP_000475.1
NM_001136016.3 2385 Nonsense Mutation GAG,TAG E742* NP_001129488.1
NM_001136129.2 2385 Nonsense Mutation GAG,TAG E635* NP_001129601.1
NM_001136130.2 2385 Nonsense Mutation GAG,TAG E710* NP_001129602.1
NM_001136131.2 2385 Nonsense Mutation GAG,TAG E656* NP_001129603.1
NM_001204301.1 2385 Nonsense Mutation GAG,TAG E748* NP_001191230.1
NM_001204302.1 2385 Nonsense Mutation GAG,TAG E729* NP_001191231.1
NM_001204303.1 2385 Nonsense Mutation GAG,TAG E673* NP_001191232.1
NM_201413.2 2385 Nonsense Mutation GAG,TAG E747* NP_958816.1
NM_201414.2 2385 Nonsense Mutation GAG,TAG E691* NP_958817.1

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