Product Details

SNP ID: rs4426333
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:101177841 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TGAAGATGATTGGAAAATATATTTG[G/T]TGGCCCAGAACTGTATTTGCTCGAC
Phenotype: MIM: 608183
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: CHSY1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014918.4	2432	Missense Mutation	CAA,CAC	Q652H	NP_055733.2