Product Details

SNP ID
rs115243198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:119681266 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGGCGGAGCCCAGCAGGCGCCC[A/G]GCTGAGAGCTTCCCTGACCTTGTCC
Phenotype
Polymorphism
A/G, 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_001271049.1 545 Intron NP_001257978.1
XM_006712353.3 545 Intron XP_006712416.1
XM_017003550.1 545 Intron XP_016859039.1
XM_017003551.1 545 Intron XP_016859040.1
XM_017003552.1 545 Intron XP_016859041.1
XM_017003553.1 545 Intron XP_016859042.1
XM_017003554.1 545 Intron XP_016859043.1
XM_017003555.1 545 Intron XP_016859044.1
XM_017003556.1 545 Intron XP_016859045.1
XM_017003557.1 545 Intron XP_016859046.1
XM_017003558.1 545 Intron XP_016859047.1
XM_017003559.1 545 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_001105198.1 545 Missense Mutation CAG,CGG Q138R NP_001098668.1
NM_001105199.1 545 Missense Mutation CAG,CGG Q138R NP_001098669.1
NM_030577.2 545 Missense Mutation CAG,CGG Q138R NP_085054.2

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