Product Details

SNP ID
rs146180146
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:129908128 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCTAAACAGCAGTAAGCCTCTCT[A/T]CCTGGGACAGACTGGCCTGGGGAAT
Phenotype
MIM: 609963
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CHSY3 PubMed Links

Gene Details

Gene
CHSY3
Gene Name
chondroitin sulfate synthase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_175856.4 1228 Missense Mutation TAC,TTC Y285F NP_787052.3
XM_005271982.3 1228 Missense Mutation TAC,TTC Y285F XP_005272039.1
XM_005271983.3 1228 Missense Mutation TAC,TTC Y285F XP_005272040.1
XM_011543363.2 1228 UTR 5 XP_011541665.1
XM_011543364.2 1228 Intron XP_011541666.1
XM_011543365.2 1228 Missense Mutation TAC,TTC Y285F XP_011541667.1
XM_017009434.1 1228 Intron XP_016864923.1
XM_017009435.1 1228 Missense Mutation TAC,TTC Y285F XP_016864924.1

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