Product Details

SNP ID
rs200002694
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:223393881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCACCCCAGCGGCCGCAGCCCTGC[A/C]CGCATTACCCTCTGGCCCAGGGAGA
Phenotype
Polymorphism
A/C, 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_152610.2 509 Missense Mutation ACG,CCG T136P NP_689823.2

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