Product Details

SNP ID

rs140724567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127720319 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAGGCCTGCCTCACGCTCATCA[A/C]CAACGAGCTGAAGCAGGACACCACC

Phenotype

Polymorphism

A/C, Transversion 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	661	Missense Mutation	AAC,ACC	N181T	NP_001303966.1
NM_144965.2	661	Missense Mutation	AAC,ACC	N194T	NP_659402.1
XM_005251733.1	661	Missense Mutation	AAC,ACC	N18T	XP_005251790.1
XM_005251734.1	661	Missense Mutation	CAA,CAC	Q24H	XP_005251791.1
XM_006716970.1	661	Missense Mutation	CAA,CAC	Q24H	XP_006717033.1
XM_006716971.1	661	Missense Mutation	CAA,CAC	Q24H	XP_006717034.1
XM_011518283.1	661	Missense Mutation	AAC,ACC	N194T	XP_011516585.1
XM_011518284.1	661	Missense Mutation	AAC,ACC	N146T	XP_011516586.1
XM_011518285.1	661	Missense Mutation	AAC,ACC	N194T	XP_011516587.1
XM_011518288.1	661	Missense Mutation	AAC,ACC	N146T	XP_011516590.1
XM_011518289.2	661	Missense Mutation	CAA,CAC	Q24H	XP_011516591.1
XM_011518290.1	661	Silent Mutation	CAA,CAC	Q24H	XP_011516592.1
XM_011518291.1	661	Missense Mutation	CAA,CAC	Q24H	XP_011516593.1
XM_011518292.1	661	Missense Mutation	CAA,CAC	Q24H	XP_011516594.1
XM_011518293.1	661	Missense Mutation	AAC,ACC	N194T	XP_011516595.1
XM_011518294.2	661	Missense Mutation	AAC,ACC	N194T	XP_011516596.1
XM_011518295.1	661	Missense Mutation	AAC,ACC	N194T	XP_011516597.1
XM_011518297.1	661	Missense Mutation	AAC,ACC	N194T	XP_011516599.1
XM_011518298.2	661	Missense Mutation	AAC,ACC	N194T	XP_011516600.1

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