Product Details

SNP ID: rs200290354
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:56594431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAACGAGACGCTGCTGCGCTCGCTG[C/T]TCGGGGGCCACTACGACCCAGGCTT
Phenotype: MIM: 602991
Polymorphism: C/T, 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	733	Missense Mutation	CTC,TTC	L70F	NP_005441.1