Product Details

SNP ID
rs200528895
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:88878056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCGGACCCCAGGCTCTGGGGGCC[A/C]ACAGTTAGGATGCGGGTGAACCACA
Phenotype
MIM: 155760
Polymorphism
A/C, Transversion 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 1216 Missense Mutation GGG,TGG G395W NP_001294881.1
NM_178232.3 1216 Missense Mutation GGG,TGG G333W NP_839946.1
XM_011521261.1 1216 Missense Mutation GGG,TGG G377W XP_011519563.1
XM_017021934.1 1216 Missense Mutation GGG,TGG G294W XP_016877423.1
XM_017021935.1 1216 Missense Mutation GGG,TGG G226W XP_016877424.1
XM_017021936.1 1216 Missense Mutation GGG,TGG G226W XP_016877425.1

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