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SNP ID: rs61738576
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:127709485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGATGTTCCGCCAGGAGTTTGAGCA[G/T]CTGGCCAATAACAAGAAGGAGATTG
Phenotype
Polymorphism: G/T, Transversion 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	268	Missense Mutation	CAG,CAT	Q75H	NP_001012520.2
XM_006717064.3	268	Missense Mutation	CAG,CAT	Q170H	XP_006717127.2
XM_011518559.2	268	Missense Mutation	CAG,CAT	Q170H	XP_011516861.2
XM_017014629.1	268	Missense Mutation	CAG,CAT	Q170H	XP_016870118.1
XM_017014630.1	268	UTR 5			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	268	Intron			NP_001002913.1
XM_006716955.3	268	Intron			XP_006717018.1
XM_017014276.1	268	Intron			XP_016869765.1
XM_017014277.1	268	Intron			XP_016869766.1
XM_017014278.1	268	Intron			XP_016869767.1

Gene: TTC16
Gene Name: tetratricopeptide repeat domain 16

There are no transcripts associated with this gene.

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