Product Details

SNP ID: rs138776675
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:56594291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGGTGGTCCTGGGGCTGCGGGCGA[C/T]ACCGGCCGGCGGCCAGCACTATCTC
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	593	Missense Mutation	ACA,ATA	T23I	NP_005441.1