Product Details

SNP ID

rs793274

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:19225738 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGTTTTATGTGCACTCACCTGCAA[C/T]TGGGGAGCTGTAAATCCTGTGGTTT

Phenotype

MIM: 612047

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

E2F8 PubMed Links

Gene Details

Gene

E2F8

Gene Name

E2F transcription factor 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256371.1	2542	Missense Mutation	ATT,GTT	I674V	NP_001243300.1
NM_001256372.1	2542	Missense Mutation	ATT,GTT	I674V	NP_001243301.1
NM_024680.3	2542	Missense Mutation	ATT,GTT	I674V	NP_078956.2
XM_011520367.1	2542	Missense Mutation	ATT,GTT	I569V	XP_011518669.1

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