Product Details

SNP ID
rs200070597
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:118139506 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGCAATGACATCAGCAGTGGC[A/G]CAGTCCTCTCCGATTATGTGGGCTC
Phenotype
MIM: 604591
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PEBP1 PubMed Links

Gene Details

Gene
PEBP1
Gene Name
phosphatidylethanolamine binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002567.3 627 Missense Mutation ACA,GCA T101A NP_002558.1

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