Product Details

SNP ID
rs115367873
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:51361310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAAAGGCTGAAATGGATCATTC[A/T]GTTTAAAGGGATCAGGAGAATCCAA
Phenotype
MIM: 600051
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
EPS15 PubMed Links

Gene Details

Gene
EPS15
Gene Name
epidermal growth factor receptor pathway substrate 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159969.1 2438 Missense Mutation CAG,CTG Q488L NP_001153441.1
NM_001981.2 2438 Missense Mutation CAG,CTG Q802L NP_001972.1
XM_005270618.2 2438 Missense Mutation CAG,CTG Q772L XP_005270675.1
XM_017000615.1 2438 Missense Mutation CAG,CTG Q839L XP_016856104.1
XM_017000616.1 2438 Missense Mutation CAG,CTG Q771L XP_016856105.1
XM_017000617.1 2438 Missense Mutation CAG,CTG Q734L XP_016856106.1
XM_017000618.1 2438 Missense Mutation CAG,CTG Q704L XP_016856107.1
XM_017000619.1 2438 Missense Mutation CAG,CTG Q614L XP_016856108.1
XM_017000620.1 2438 Missense Mutation CAG,CTG Q564L XP_016856109.1

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