Product Details

SNP ID

rs112505588

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:85214592 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAATCTTGTAGCTTCATCAACAT[C/T]AACTGGTTTGCTTTCATGACGCTGC

Phenotype

MIM: 600967

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C8orf59 PubMed Links

Gene Details

Gene

C8orf59

Gene Name

chromosome 8 open reading frame 59

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099670.2	516	Missense Mutation	AAT,GAT	N91D	NP_001093140.1
NM_001099671.2	516	Missense Mutation	AAT,GAT	N91D	NP_001093141.1
NM_001099672.2	516	Missense Mutation	AAT,GAT	N91D	NP_001093142.1
NM_001099673.2	516	Missense Mutation	AAT,GAT	N91D	NP_001093143.1
NM_001293320.1	516	Missense Mutation	AAT,GAT	N52D	NP_001280249.1
XM_011517528.2	516	Intron			XP_011515830.1

Gene

E2F5

Gene Name

E2F transcription factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083588.1	516	Intron			NP_001077057.1
NM_001083589.1	516	Intron			NP_001077058.1
NM_001951.3	516	Intron			NP_001942.2

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