Product Details

SNP ID
rs208950
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:22814428 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTCCCCGAGGAGCCGCTGCCCC[C/G]GGGACCCCCTGGCACTGTGCGCACC
Phenotype
MIM: 604056
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HS3ST2 PubMed Links

Gene Details

Gene
HS3ST2
Gene Name
heparan sulfate-glucosamine 3-sulfotransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006043.1 267 Intron NP_006034.1
XM_011546001.2 267 UTR 5 XP_011544303.1
XM_011546002.2 267 UTR 5 XP_011544304.1
Gene
LOC107984851
Gene Name
collagen alpha-1(XVI) chain-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_017023983.1 267 Missense Mutation CGG,GGG R53G XP_016879472.1

View Full Product Details