Product Details

SNP ID

rs3809197

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:96489640 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCGCAGGGCTCCCCCTCGAGCTCT[C/T]CGTCAGACGACTCTACCACCTCGGG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CFAP54 PubMed Links

Gene Details

Gene

CFAP54

Gene Name

cilia and flagella associated protein 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306084.1	75	Missense Mutation	CCG,TCG	P11S	NP_001293013.1
XM_011539069.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537371.1
XM_011539070.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537372.1
XM_011539071.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537373.1
XM_011539072.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537374.1
XM_011539073.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537375.1
XM_011539074.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537376.1
XM_011539076.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537378.1
XM_011539077.2	75	Intron			XP_011537379.1
XM_011539078.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537380.1
XM_011539079.1	75	Intron			XP_011537381.1
XM_011539081.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537383.1
XM_011539083.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537385.1
XM_011539084.2	75	Missense Mutation	CCG,TCG	P11S	XP_011537386.1
XM_011539085.1	75	Intron			XP_011537387.1
XM_017018866.1	75	Missense Mutation	CCG,TCG	P11S	XP_016874355.1
XM_017018867.1	75	Intron			XP_016874356.1

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