Product Details

SNP ID
rs111703383
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:22815000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAGAAGGGGGGCACCCGGGCCGT[A/G]CTGGAGTTTATCCGAGTACACCCGG
Phenotype
MIM: 604056
Polymorphism
A/G, 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_006043.1 839 Silent Mutation GTA,GTG V130V NP_006034.1
XM_011546001.2 839 Silent Mutation GTA,GTG V130V XP_011544303.1
XM_011546002.2 839 Silent Mutation GTA,GTG V130V 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_017023983.1 839 Intron XP_016879472.1

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