Product Details

SNP ID
rs144003022
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:88877981 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGCCCCAGGTCCTAGTGCTGGC[A/G]GTAGCAGTAAACACCGTACAAGCGG
Phenotype
MIM: 155760
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACAN PubMed Links

Gene Details

Gene
ACAN
Gene Name
aggrecan
There are no transcripts associated with this gene.

Gene
HAPLN3
Gene Name
hyaluronan and proteoglycan link protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307952.1 1291 Missense Mutation CGC,TGC R420C NP_001294881.1
NM_178232.3 1291 Missense Mutation CGC,TGC R358C NP_839946.1
XM_011521261.1 1291 Missense Mutation CGC,TGC R402C XP_011519563.1
XM_017021934.1 1291 Missense Mutation CGC,TGC R319C XP_016877423.1
XM_017021935.1 1291 Missense Mutation CGC,TGC R251C XP_016877424.1
XM_017021936.1 1291 Missense Mutation CGC,TGC R251C XP_016877425.1

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