Product Details

SNP ID
rs76869510
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:22814794 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCTGCCTCCGCGGCCCCAGCGCG[A/G]GCGGCCAGAAACTTCTCCAGAAGTC
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_006043.1 633 Missense Mutation AGC,GGC S62G NP_006034.1
XM_011546001.2 633 Missense Mutation AGC,GGC S62G XP_011544303.1
XM_011546002.2 633 Missense Mutation AGC,GGC S62G 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_017023983.1 633 Intron XP_016879472.1

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