Product Details

SNP ID: rs199566527
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:56594498 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCGAGGACCGGCCCGGCGGGGGCG[A/G]GGGTGCAGCTGGGGGCGCGGAGGAC
Phenotype: MIM: 602991
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: NOG PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005450.4	800	Missense Mutation	GAG,GGG	E92G	NP_005441.1