Product Details

SNP ID

rs188096179

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127720169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGCCTGAGAAACCATGCTTCC[A/G]TTACCGATGGTGAGTGCCCCTGCCA

Phenotype

Polymorphism

A/G, 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	598	Missense Mutation	CAT,CGT	H160R	NP_001303966.1
NM_144965.2	598	Missense Mutation	CAT,CGT	H173R	NP_659402.1
XM_005251733.1	598	UTR 5			XP_005251790.1
XM_005251734.1	598	Silent Mutation	CCA,CCG	P3P	XP_005251791.1
XM_006716970.1	598	Silent Mutation	CCA,CCG	P3P	XP_006717033.1
XM_006716971.1	598	Silent Mutation	CCA,CCG	P3P	XP_006717034.1
XM_011518283.1	598	Missense Mutation	CAT,CGT	H173R	XP_011516585.1
XM_011518284.1	598	Missense Mutation	CAT,CGT	H125R	XP_011516586.1
XM_011518285.1	598	Missense Mutation	CAT,CGT	H173R	XP_011516587.1
XM_011518288.1	598	Missense Mutation	CAT,CGT	H125R	XP_011516590.1
XM_011518289.2	598	Silent Mutation	CCA,CCG	P3P	XP_011516591.1
XM_011518290.1	598	Silent Mutation	CCA,CCG	P3P	XP_011516592.1
XM_011518291.1	598	Silent Mutation	CCA,CCG	P3P	XP_011516593.1
XM_011518292.1	598	Silent Mutation	CCA,CCG	P3P	XP_011516594.1
XM_011518293.1	598	Missense Mutation	CAT,CGT	H173R	XP_011516595.1
XM_011518294.2	598	Missense Mutation	CAT,CGT	H173R	XP_011516596.1
XM_011518295.1	598	Missense Mutation	CAT,CGT	H173R	XP_011516597.1
XM_011518297.1	598	Missense Mutation	CAT,CGT	H173R	XP_011516599.1
XM_011518298.2	598	Missense Mutation	CAT,CGT	H173R	XP_011516600.1

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