Product Details

SNP ID
rs150075110
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:101177840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAAGATGATTGGAAAATATATTT[C/G]TTGGCCCAGAACTGTATTTGCTCGA
Phenotype
MIM: 608183
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CHSY1 PubMed Links

Gene Details

Gene
CHSY1
Gene Name
chondroitin sulfate synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014918.4 1715 Missense Mutation CAA,GAA Q653E NP_055733.2
XM_006720435.3 1715 Missense Mutation CAA,GAA Q381E XP_006720498.1
XM_011521364.2 1715 Missense Mutation CAA,GAA Q681E XP_011519666.1
XM_017022011.1 1715 Missense Mutation CAA,GAA Q381E XP_016877500.1

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