Product Details

SNP ID
rs28381069
Assay Type
Functionally Tested
NCBI dbSNP Submissions
16
Location
Chr.1:113905723 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGCCTGTCTAGCACCTGGGCCC[G/T]GCCCCTCTACTGCTCCCCAATTACA
Phenotype
MIM: 607245 MIM: 609683
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
AP4B1 PubMed Links

Gene Details

Gene
AP4B1
Gene Name
adaptor related protein complex 4 beta 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253852.2 431 Intron NP_001240781.1
NM_001253853.2 431 Intron NP_001240782.1
NM_001308312.1 431 Intron NP_001295241.1
NM_006594.4 431 Intron NP_006585.2
XM_011540523.2 431 Intron XP_011538825.1
XM_011540524.2 431 Intron XP_011538826.1
XM_011540525.2 431 Intron XP_011538827.1
XM_011540528.2 431 Intron XP_011538830.1
XM_017000088.1 431 Intron XP_016855577.1
XM_017000089.1 431 Intron XP_016855578.1
XM_017000090.1 431 Intron XP_016855579.1
XM_017000091.1 431 Intron XP_016855580.1
XM_017000092.1 431 Intron XP_016855581.1
XM_017000093.1 431 Intron XP_016855582.1
Gene
AP4B1-AS1
Gene Name
AP4B1 antisense RNA 1
There are no transcripts associated with this gene.

Gene
DCLRE1B
Gene Name
DNA cross-link repair 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319946.1 431 UTR 5 NP_001306875.1
NM_001319947.1 431 UTR 5 NP_001306876.1
NM_022836.3 431 Missense Mutation CGG,CTG R46L NP_073747.1

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