Product Details

SNP ID
rs139824617
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:129905581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAAGTACATGCACGACCACTACC[C/T]GGACAAGTATGAGTGGTTCATGCGC
Phenotype
MIM: 609963
Polymorphism
C/T, Transition 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 1126 Missense Mutation CCG,CTG P251L NP_787052.3
XM_005271982.3 1126 Missense Mutation CCG,CTG P251L XP_005272039.1
XM_005271983.3 1126 Missense Mutation CCG,CTG P251L XP_005272040.1
XM_011543363.2 1126 Intron XP_011541665.1
XM_011543364.2 1126 Intron XP_011541666.1
XM_011543365.2 1126 Missense Mutation CCG,CTG P251L XP_011541667.1
XM_017009434.1 1126 Intron XP_016864923.1
XM_017009435.1 1126 Missense Mutation CCG,CTG P251L XP_016864924.1

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