Product Details

SNP ID

rs181385228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:231593282 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCAGAATCCAGCGTGGGACAGG[A/C]AGGTTCAAGACGCAAGGACAAGTCA

Phenotype

Polymorphism

A/C, Transversion 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	419	Missense Mutation	AAG,CAG	K111Q	NP_689827.2

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