Product Details

SNP ID

rs200476719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:231593324 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAAGTCAGAGTCTAGTGGTTTTC[C/T]CAAGTCACCTCCTGGGTAAAGACAA

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	461	Missense Mutation	CCA,TCA	P125S	NP_689827.2

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