Product Details

SNP ID
rs142867960
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:40301290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCGGCAGCCCCACGGGGCCTGG[A/C]AGGCCAGGTCGACCTGCCTCTCCTG
Phenotype
MIM: 120260 MIM: 606480
Polymorphism
A/C, Transversion 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 2100 Silent Mutation CTG,CTT L654L NP_001843.1
XM_006710365.3 2100 Silent Mutation CTG,CTT L654L XP_006710428.1
XM_011540715.2 2100 Silent Mutation CTG,CTT L564L XP_011539017.1
XM_011540716.2 2100 Silent Mutation CTG,CTT L564L XP_011539018.1
XM_011540717.2 2100 Silent Mutation CTG,CTT L473L XP_011539019.1
XM_017000332.1 2100 Silent Mutation CTG,CTT L658L XP_016855821.1
XM_017000333.1 2100 Silent Mutation CTG,CTT L560L XP_016855822.1
Gene
ZMPSTE24
Gene Name
zinc metallopeptidase STE24
There are no transcripts associated with this gene.

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