Product Details

SNP ID
rs143184627
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231593291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGCGTGGGACAGGCAGGTTCAA[A/G]ACGCAAGGACAAGTCAGAGTCTAGT
Phenotype
Polymorphism
A/G, 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_152614.2 428 Missense Mutation AAC,GAC N114D NP_689827.2

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