Product Details

SNP ID

rs138020803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:40153677 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAAACACAGACCAAGAATCACTA[C/G]AAAGGCTCTTCAGAAACTCTGGAGA

Phenotype

MIM: 607702

Polymorphism

C/G, Transversion 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	210	Missense Mutation	CAA,GAA	Q49E	NP_064515.1

View Full Product Details