Product Details

SNP ID
rs189653983
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:67208619 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGATGCACCACCCCGATGATCAG[A/G]GAGGGATTCAGTACTATCTGCTGCT
Phenotype
MIM: 614888
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AAGAB PubMed Links

Gene Details

Gene
AAGAB
Gene Name
alpha- and gamma-adaptin binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271885.1 1013 Missense Mutation CCT,TCT P111S NP_001258814.1
NM_001271886.1 1013 Missense Mutation CCT,TCT P111S NP_001258815.1
NM_024666.4 1013 Missense Mutation CCT,TCT P220S NP_078942.3
XM_011522020.1 1013 Missense Mutation CCT,TCT P111S XP_011520322.1

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