Product Details

SNP ID
rs147559634
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:47974117 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCCATCCTTCAGGGCAGTGTAC[A/G]TGAACCTGCTATTGCCCTCTGCCCG
Phenotype
MIM: 120140
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COL2A1 PubMed Links

Gene Details

Gene
COL2A1
Gene Name
collagen type II alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001844.4 5855 Missense Mutation ACG,ATG T1430M NP_001835.3
NM_033150.2 5855 Missense Mutation ACG,ATG T1361M NP_149162.2
XM_017018828.1 5855 Missense Mutation ACG,ATG T1478M XP_016874317.1
XM_017018829.1 5855 Missense Mutation ACG,ATG T1477M XP_016874318.1
XM_017018830.1 5855 Missense Mutation ACG,ATG T1408M XP_016874319.1
XM_017018831.1 5855 Missense Mutation ACG,ATG T1248M XP_016874320.1
Gene
TMEM106C
Gene Name
transmembrane protein 106C
There are no transcripts associated with this gene.

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