Product Details

SNP ID
rs191056124
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:119560021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATTATGACTGCATCCGTGTTCAC[C/T]GTAAGGTAGGTCTCTTAAAATTGCT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFAP221 PubMed Links

Gene Details

Gene
CFAP221
Gene Name
cilia and flagella associated protein 221
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271049.1 463 Missense Mutation CGT,TGT R141C NP_001257978.1
XM_006712353.3 463 Missense Mutation CGT,TGT R141C XP_006712416.1
XM_017003550.1 463 Missense Mutation CGT,TGT R141C XP_016859039.1
XM_017003551.1 463 Missense Mutation CGT,TGT R141C XP_016859040.1
XM_017003552.1 463 Missense Mutation CGT,TGT R141C XP_016859041.1
XM_017003553.1 463 Missense Mutation CGT,TGT R141C XP_016859042.1
XM_017003554.1 463 UTR 5 XP_016859043.1
XM_017003555.1 463 UTR 5 XP_016859044.1
XM_017003556.1 463 Silent Mutation ACC,ACT T13T XP_016859045.1
XM_017003557.1 463 Silent Mutation ACC,ACT T13T XP_016859046.1
XM_017003558.1 463 Missense Mutation CGT,TGT R141C XP_016859047.1
XM_017003559.1 463 UTR 5 XP_016859048.1

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