Product Details

SNP ID
rs117963786
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127717746 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGACAACTGCAAGCACCTGGAG[C/T]GCCTCACCTTTGTGCTCTACCTACA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFAP157 PubMed Links

Gene Details

Gene
CFAP157
Gene Name
cilia and flagella associated protein 157
There are no transcripts associated with this gene.

Gene
PTRH1
Gene Name
peptidyl-tRNA hydrolase 1 homolog
There are no transcripts associated with this gene.

Gene
TTC16
Gene Name
tetratricopeptide repeat domain 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317037.1 480 Missense Mutation CGC,TGC R121C NP_001303966.1
NM_144965.2 480 Missense Mutation CGC,TGC R134C NP_659402.1
XM_005251733.1 480 UTR 5 XP_005251790.1
XM_005251734.1 480 UTR 5 XP_005251791.1
XM_006716970.1 480 UTR 5 XP_006717033.1
XM_006716971.1 480 UTR 5 XP_006717034.1
XM_011518283.1 480 Missense Mutation CGC,TGC R134C XP_011516585.1
XM_011518284.1 480 Intron XP_011516586.1
XM_011518285.1 480 Missense Mutation CGC,TGC R134C XP_011516587.1
XM_011518288.1 480 Intron XP_011516590.1
XM_011518289.2 480 UTR 5 XP_011516591.1
XM_011518290.1 480 Intron XP_011516592.1
XM_011518291.1 480 UTR 5 XP_011516593.1
XM_011518292.1 480 Intron XP_011516594.1
XM_011518293.1 480 Missense Mutation CGC,TGC R134C XP_011516595.1
XM_011518294.2 480 Missense Mutation CGC,TGC R134C XP_011516596.1
XM_011518295.1 480 Missense Mutation CGC,TGC R134C XP_011516597.1
XM_011518297.1 480 Missense Mutation CGC,TGC R134C XP_011516599.1
XM_011518298.2 480 Missense Mutation CGC,TGC R134C XP_011516600.1

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