Product Details

SNP ID
rs141330083
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64986989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGTTCTTTCACCTACTATTGCCC[C/T]CCATCTTCCTCCCCCGTCTGGTCAG
Phenotype
MIM: 134636
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHURC1-FNTB PubMed Links

Gene Details

Gene
CHURC1-FNTB
Gene Name
CHURC1-FNTB readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001202558.1 201 Intron NP_001189487.1
NM_001202559.1 201 Intron NP_001189488.1
Gene
FNTB
Gene Name
farnesyltransferase, CAAX box, beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002028.3 201 Silent Mutation CCC,CCT P12P NP_002019.1

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