Product Details

SNP ID
rs200002514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:15621365 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGATTCCACTCCTGAATCACTAGC[A/G]GCAGCACTGATTTTTTCCTGTCGTC
Phenotype
MIM: 600206
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPS8 PubMed Links

Gene Details

Gene
EPS8
Gene Name
epidermal growth factor receptor pathway substrate 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004447.5 2918 Silent Mutation NP_004438.3
XM_011520605.2 2918 Silent Mutation XP_011518907.1

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