Product Details

SNP ID
rs1045236
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3751266 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACACTCTGCCCATTGATCTCAA[A/T]GATGCGGTGGCCGACGCGGATGCCC
Phenotype
MIM: 604262 MIM: 612689
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
APBA3 PubMed Links

Gene Details

Gene
APBA3
Gene Name
amyloid beta precursor protein binding family A member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004886.3 1882 Missense Mutation ATT,TTT I527F NP_004877.1
XM_006722950.3 1882 Silent Mutation TCA,TCT S561S XP_006723013.1
XM_006722951.3 1882 Silent Mutation TCA,TCT S319S XP_006723014.1
Gene
TJP3
Gene Name
tight junction protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267560.1 1882 Intron NP_001254489.1
NM_001267561.1 1882 Intron NP_001254490.1

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