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rs2070739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common on affy axiom data
Make rs2070739(A;A)
Make rs2070739(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47974193
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs2070739
ebirs2070739
HLIrs2070739
Exacrs2070739
Varsomers2070739
Maprs2070739
PheGenIrs2070739
hapmaprs2070739
1000 genomesrs2070739
hgdprs2070739
ensemblrs2070739
gopubmedrs2070739
geneviewrs2070739
scholarrs2070739
googlers2070739
pharmgkbrs2070739
gwascentralrs2070739
openSNPrs2070739
23andMers2070739
23andMe allrs2070739
SNP Nexus

SNPshotrs2070739
SNPdbers2070739
MSV3drs2070739
GWAS Ctlgrs2070739
GMAF0.1956
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene COL2A1
allele T
frequency 0.083
sift AFFECT FUNCTION
HuRef 1103649434880
Disease Association Of special interest are three different variants that replace arginine codons at positions 206, 650 and 920 in the triple-helical domain with codons for cysteine, an amino acid not normally found in the triple-helical domain of type II collagen from any species. They are of special interest, because they are the only amino acid substitutions in the triple-helical domain that replaces a Y-position amino acid and cause a disease phenotype. Also, they are recurrent in that they have been found in more than one unrelated individual.



[PMID 17697348OA-icon.png] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).


[PMID 18523590OA-icon.png] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.


[PMID 19430638OA-icon.png] Host genetic and epigenetic factors in toxoplasmosis.


GET Evidence
COL2A1-G1405S
aa_change Gly1405Ser
aa_change_short G1405S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.068786
summary