Product Details

SNP ID

rs201158784

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127709685 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGACCAGCTCACCACGGAGAACA[C/T]CATCCTTGGTGAGGAGGGGACTGGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012502.2	468	Missense Mutation	ACC,ATC	T142I	NP_001012520.2
XM_006717064.3	468	Missense Mutation	ACC,ATC	T237I	XP_006717127.2
XM_011518559.2	468	Missense Mutation	ACC,ATC	T237I	XP_011516861.2
XM_017014629.1	468	Missense Mutation	ACC,ATC	T237I	XP_016870118.1
XM_017014630.1	468	Missense Mutation	CCA,TCA	P26S	XP_016870119.1

Gene

PTRH1

Gene Name

peptidyl-tRNA hydrolase 1 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002913.1	468	Intron			NP_001002913.1
XM_006716955.3	468	Intron			XP_006717018.1
XM_017014276.1	468	Intron			XP_016869765.1
XM_017014277.1	468	Intron			XP_016869766.1
XM_017014278.1	468	Intron			XP_016869767.1

Gene

TTC16

Gene Name

tetratricopeptide repeat domain 16

There are no transcripts associated with this gene.

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