Product Details

SNP ID
rs138260281
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:73130983 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCACCAACCTCTATGCAACTGCC[A/G]CTTTGTGCCTGAGCTGGTGGCGCTG
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C16orf47 PubMed Links

Gene Details

Gene
C16orf47
Gene Name
chromosome 16 open reading frame 47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207385.1 2012 Missense Mutation CGG,TGG R48W NP_997268.1
XM_017023228.1 2012 Missense Mutation CGG,TGG R48W XP_016878717.1
XM_017023229.1 2012 Missense Mutation CGG,TGG R48W XP_016878718.1

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