Product Details

SNP ID: rs117165670
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:56594401 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCTATCTTTGACCCCAAGGAAAAG[A/G]ATCTGAACGAGACGCTGCTGCGCTC
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	703	Missense Mutation	AAT,GAT	N60D	NP_005441.1