Product Details

SNP ID
rs201234574
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:82662895 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTACCCGGTGCAGCAGCTCCTGCC[A/G]CCCAACACCCGATACTGGACTCAGA
Phenotype
MIM: 602166
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AP3B2 PubMed Links

Gene Details

Gene
AP3B2
Gene Name
adaptor related protein complex 3 beta 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278511.1 2834 Missense Mutation CGG,TGG R827W NP_001265440.1
NM_001278512.1 2834 Missense Mutation CGG,TGG R878W NP_001265441.1
NM_004644.4 2834 Missense Mutation CGG,TGG R859W NP_004635.2
XM_017022640.1 2834 Missense Mutation CGG,TGG R835W XP_016878129.1
XM_017022641.1 2834 Intron XP_016878130.1
Gene
CPEB1-AS1
Gene Name
CPEB1 antisense RNA 1
There are no transcripts associated with this gene.

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