Product Details

SNP ID

rs182725567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127720162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGAGCTCCAGCCTGAGAAACCA[C/T]GCTTCCGTTACCGATGGTGAGTGCC

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	591	Missense Mutation	CGC,TGC	R158C	NP_001303966.1
NM_144965.2	591	Missense Mutation	CGC,TGC	R171C	NP_659402.1
XM_005251733.1	591	UTR 5			XP_005251790.1
XM_005251734.1	591	Missense Mutation	ACG,ATG	T1M	XP_005251791.1
XM_006716970.1	591	Missense Mutation	ACG,ATG	T1M	XP_006717033.1
XM_006716971.1	591	Missense Mutation	ACG,ATG	T1M	XP_006717034.1
XM_011518283.1	591	Missense Mutation	CGC,TGC	R171C	XP_011516585.1
XM_011518284.1	591	Missense Mutation	CGC,TGC	R123C	XP_011516586.1
XM_011518285.1	591	Missense Mutation	CGC,TGC	R171C	XP_011516587.1
XM_011518288.1	591	Missense Mutation	CGC,TGC	R123C	XP_011516590.1
XM_011518289.2	591	Missense Mutation	ACG,ATG	T1M	XP_011516591.1
XM_011518290.1	591	Missense Mutation	ACG,ATG	T1M	XP_011516592.1
XM_011518291.1	591	Missense Mutation	ACG,ATG	T1M	XP_011516593.1
XM_011518292.1	591	Missense Mutation	ACG,ATG	T1M	XP_011516594.1
XM_011518293.1	591	Missense Mutation	CGC,TGC	R171C	XP_011516595.1
XM_011518294.2	591	Missense Mutation	CGC,TGC	R171C	XP_011516596.1
XM_011518295.1	591	Missense Mutation	CGC,TGC	R171C	XP_011516597.1
XM_011518297.1	591	Missense Mutation	CGC,TGC	R171C	XP_011516599.1
XM_011518298.2	591	Missense Mutation	CGC,TGC	R171C	XP_011516600.1

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