Product Details

SNP ID
rs138635787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:88879089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGGCTGCCGGGGCAACATGATG[A/G]GGTACTGCACCGTGGCATCCTGCAG
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_001307952.1 893 Missense Mutation CCC,CTC P287L NP_001294881.1
NM_178232.3 893 Missense Mutation CCC,CTC P225L NP_839946.1
XM_011521261.1 893 Missense Mutation CCC,CTC P269L XP_011519563.1
XM_017021934.1 893 Intron XP_016877423.1
XM_017021935.1 893 Missense Mutation CCC,CTC P118L XP_016877424.1
XM_017021936.1 893 Missense Mutation CCC,CTC P118L XP_016877425.1

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