Product Details

SNP ID: rs62636495
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:219418500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACTCGTCCAGCCAGCGCGTGTCCT[C/T]CTACCGCCGCACCTTCGGCGGGGCC
Phenotype: MIM: 125660
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DES PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001927.3	124	Missense Mutation	TCC,TTC	S13F	NP_001918.3