Product Details

SNP ID
rs200353990
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:223394286 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCTGACCCGTCTCAAGAAGGCC[C/G]AGAGGATACGGGAGCTGCAGCAGCA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CCDC185 PubMed Links

Gene Details

Gene
CCDC185
Gene Name
coiled-coil domain containing 185
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152610.2 914 Missense Mutation CAG,GAG Q271E NP_689823.2

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