Product Details

SNP ID
rs141988572
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41809924 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCGGCGGGAGCAGCTGTTGGCAC[G/T]GAAGAACCTGGCACAGCTGAACGAC
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC134 PubMed Links

Gene Details

Gene
CCDC134
Gene Name
coiled-coil domain containing 134
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304797.1 400 Missense Mutation CGG,CTG R50L NP_001291726.1
NM_024821.3 400 Missense Mutation CGG,CTG R50L NP_079097.1
XM_005261748.3 400 Missense Mutation CGG,CTG R50L XP_005261805.1

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