Product Details

SNP ID

rs147627051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:15621412 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCTTCTCATAATTTCTTGTAACT[C/T]GGAGCTGCCACTGCTATCCTGAAAG

Phenotype

MIM: 600206

Polymorphism

C/T, 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	2871	Missense Mutation	AAG,GAG	K792E	NP_004438.3
XM_011520605.2	2871	Missense Mutation	AAG,GAG	K812E	XP_011518907.1

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