Product Details

SNP ID
rs116626063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:47965980 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACATTTAATAAGCAAGACTCCCTT[C/G]TAATTCTCACCATCATGGTAAGCCT
Phenotype
MIM: 120140
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COL2A1 PubMed Links

Gene Details

Gene
COL2A1
Gene Name
collagen type II alpha 1 chain
There are no transcripts associated with this gene.

Gene
TMEM106C
Gene Name
transmembrane protein 106C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143841.1 580 Missense Mutation CTA,GTA L132V NP_001137313.1
NM_001143842.1 580 Missense Mutation CTA,GTA L132V NP_001137314.1
NM_001143843.1 580 Missense Mutation CTA,GTA L132V NP_001137315.1
NM_024056.3 580 Missense Mutation CTA,GTA L132V NP_076961.1

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