Product Details

SNP ID
rs201000437
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:40301369 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGCCGTTGATTGCCTGGCCAGGC[C/T]GGCCAGGGAGTCCTGTGAACAGGAG
Phenotype
MIM: 120260 MIM: 606480
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL9A2 PubMed Links

Gene Details

Gene
COL9A2
Gene Name
collagen type IX alpha 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001852.3 2021 Missense Mutation CAG,CGG Q628R NP_001843.1
XM_006710365.3 2021 Missense Mutation CAG,CGG Q628R XP_006710428.1
XM_011540715.2 2021 Missense Mutation CAG,CGG Q538R XP_011539017.1
XM_011540716.2 2021 Missense Mutation CAG,CGG Q538R XP_011539018.1
XM_011540717.2 2021 Missense Mutation CAG,CGG Q447R XP_011539019.1
XM_017000332.1 2021 Missense Mutation CAG,CGG Q632R XP_016855821.1
XM_017000333.1 2021 Missense Mutation CAG,CGG Q534R XP_016855822.1
Gene
ZMPSTE24
Gene Name
zinc metallopeptidase STE24
There are no transcripts associated with this gene.

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