Product Details

SNP ID
rs139954673
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:42801218 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAAAGCTCACTGCTGCCAAGGTG[C/T]TGATGTCCATGATTGTGATGATGCT
Phenotype
MIM: 601484
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC152 PubMed Links

Gene Details

Gene
CCDC152
Gene Name
coiled-coil domain containing 152
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134848.1 2272 UTR 3 NP_001128320.1
Gene
SEPP1
Gene Name
selenoprotein P, plasma, 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085486.1 2272 Silent Mutation CAA,CAG Q216Q NP_001078955.1
NM_001093726.1 2272 Silent Mutation CAA,CAG Q246Q NP_001087195.1
NM_005410.2 2272 Silent Mutation CAA,CAG Q216Q NP_005401.3

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