Product Details

SNP ID
rs148556650
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:86915152 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCAGAAACTGGAGGAGTCCCGCT[C/T]GAAGCTAGGTGAGGAACTGAACTGC
Phenotype
MIM: 604844 MIM: 606254
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HS2ST1 PubMed Links

Gene Details

Gene
HS2ST1
Gene Name
heparan sulfate 2-O-sulfotransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134492.1 501 Missense Mutation TCG,TTG S39L NP_001127964.1
NM_012262.3 501 Missense Mutation TCG,TTG S39L NP_036394.1
Gene
SEP15
Gene Name
15 kDa selenoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004261.3 501 Intron NP_004252.2
NM_203341.1 501 Intron NP_976086.1

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