Product Details

SNP ID
rs76967353
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:228493168 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCTGAGAAGGAGGAGGGGCTCC[C/G]TGAGGACGAGCTGGCTGACCCCACT
Phenotype
MIM: 613754
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RNF187 PubMed Links

Gene Details

Gene
RNF187
Gene Name
ring finger protein 187
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010858.2 721 Missense Mutation CCT,CGT P200R NP_001010858.2

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