Product Details

SNP ID
rs201746571
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:119681182 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTGGTGGGCATCCCTGCCAGTT[A/T]CTTGGGAGACCTAGTGATCAACACT
Phenotype
Polymorphism
A/T, Transversion 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_001271049.1 461 Intron NP_001257978.1
XM_006712353.3 461 Intron XP_006712416.1
XM_017003550.1 461 Intron XP_016859039.1
XM_017003551.1 461 Intron XP_016859040.1
XM_017003552.1 461 Intron XP_016859041.1
XM_017003553.1 461 Intron XP_016859042.1
XM_017003554.1 461 Intron XP_016859043.1
XM_017003555.1 461 Intron XP_016859044.1
XM_017003556.1 461 Intron XP_016859045.1
XM_017003557.1 461 Intron XP_016859046.1
XM_017003558.1 461 Intron XP_016859047.1
XM_017003559.1 461 Intron XP_016859048.1
Gene
TMEM177
Gene Name
transmembrane protein 177
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105198.1 461 Missense Mutation TAC,TTC Y110F NP_001098668.1
NM_001105199.1 461 Missense Mutation TAC,TTC Y110F NP_001098669.1
NM_030577.2 461 Missense Mutation TAC,TTC Y110F NP_085054.2

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