Product Details

SNP ID

rs188096827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:96500850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTACAGTGCCACTTCTTTGTTT[A/G]ATATCTGGACTAAATACGCCCCCAG

Phenotype

Polymorphism

A/G, 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	378	Missense Mutation	AAT,GAT	N112D	NP_001293013.1
XM_011539069.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537371.1
XM_011539070.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537372.1
XM_011539071.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537373.1
XM_011539072.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537374.1
XM_011539073.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537375.1
XM_011539074.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537376.1
XM_011539076.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537378.1
XM_011539077.2	378	Intron			XP_011537379.1
XM_011539078.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537380.1
XM_011539079.1	378	Intron			XP_011537381.1
XM_011539081.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537383.1
XM_011539083.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537385.1
XM_011539084.2	378	Missense Mutation	AAT,GAT	N112D	XP_011537386.1
XM_011539085.1	378	Intron			XP_011537387.1
XM_017018866.1	378	Missense Mutation	AAT,GAT	N112D	XP_016874355.1
XM_017018867.1	378	Intron			XP_016874356.1

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