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rs13225917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3 Relatively rare genotype, please email info@snpedia.com
Make rs13225917(A;G)
Make rs13225917(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position139166872
GeneTTC26
is asnp
is mentioned by
dbSNPrs13225917
ebirs13225917
HLIrs13225917
Exacrs13225917
Varsomers13225917
Maprs13225917
PheGenIrs13225917
hapmaprs13225917
1000 genomesrs13225917
hgdprs13225917
ensemblrs13225917
gopubmedrs13225917
geneviewrs13225917
scholarrs13225917
googlers13225917
pharmgkbrs13225917
gwascentralrs13225917
openSNPrs13225917
23andMers13225917
23andMe allrs13225917
SNP Nexus

SNPshotrs13225917
SNPdbers13225917
MSV3drs13225917
GWAS Ctlgrs13225917
Max Magnitude3
? (A;A) (A;G) (G;G) 28
rs13225917 represents a relatively rare SNP tested by the 23andMe v3 chip. Due to its rarity, its effects have not and likely won't be determined through GWAS surveys. In HapMap populations, it's most common among Mexicans and Japanese occurring on the dominant European haplotype, and no homozygous A-allele carriers exist in HapMap, OpenSNP or 1000 Genomes, though this might be due to the overall rarity of the rs13225917(A) allele. The mutation causes an aspartate (D) to asparagine (N) change at position 310 (D310N, p.Asp310Asn) in the Tetratricopeptide repeat protein 26 (TTC26), which might (or might not) result in a damaging missense variant. The protein is IFT complex B protein, also known as DYF13 in nematodes, and it has a proposed function-dependent name of IFT56.

TTC26 is thought to play a critical role in ciliogenesis and normal cilia (cellular "hairs") function, as determined by protein similarity, and it is highly conserved between ciliated species studied. In studies on Zebrafish, disabling the gene prevented normal development of photoreceptor sensory and other cilia. The protein is necessary for assembly of full length cilia, although the effect (if any) of rs13225917 on its functioning has not been determined. One publication [PMID 22718903OA-icon.png] speculates that this protein may play a role in Inherited Retinal Degeneration and so screening for TTC26 mutations in human ciliopathies could be warranted, but to date there is no evidence supporting rs13225917 as a mutation of any consequence.

[PMID 24596149OA-icon.png] TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.

[PMID 22718903OA-icon.png] Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish.

[PMID 10517866] The tetratricopeptide repeat: a structural motif mediating protein-protein interactions.