Product Details

SNP ID: rs112556632
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:143121166 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTCCGGCCGGGCCGCCCCGTGCTC[A/G]TGCCCGTTTGGACCTCCGCACTCCT
Phenotype: MIM: 603798
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CHST2 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004267.4	1289	Missense Mutation	CAT,CGT	H117R	NP_004258.2