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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