Product Details

SNP ID
rs78943044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:22814894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCGCGCCCGCCGCCGCCGTGCCCG[C/T]CCCTCGCCTCTCCGGTTCCAACCAC
Phenotype
MIM: 604056
Polymorphism
C/T, Transition 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_006043.1 733 Missense Mutation GCC,GTC A95V NP_006034.1
XM_011546001.2 733 Missense Mutation GCC,GTC A95V XP_011544303.1
XM_011546002.2 733 Missense Mutation GCC,GTC A95V 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_017023983.1 733 Intron XP_016879472.1

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