Product Details

SNP ID: rs142680851
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:143121676 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGTGCAAGAAGTGCCCGCCACAGC[G/T]CCTGGCGCGTTTCGAGGAGGAGTGC
Phenotype: MIM: 603798
Polymorphism: G/T, Transversion 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	1799	Missense Mutation	CGC,CTC	R287L	NP_004258.2