Product Details

SNP ID

rs185652259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:40153768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCAAGATGTGGAGGAGAAAACGC[A/G]TGCCCTGATGGCCTTGAAGAAGAGG

Phenotype

MIM: 607702

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C8orf4 PubMed Links

Gene Details

Gene

C8orf4

Gene Name

chromosome 8 open reading frame 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020130.4	301	Missense Mutation	CAT,CGT	H79R	NP_064515.1

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