Product Details

SNP ID
rs147080930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231593043 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCCCAAGGTCAGGTCCCACTCA[C/T]AGCAGATGTCTTGGCAGTGAGCAGC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2orf57 PubMed Links

Gene Details

Gene
C2orf57
Gene Name
chromosome 2 open reading frame 57
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152614.2 180 Missense Mutation ACA,ATA T31I NP_689827.2

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