Product Details

SNP ID
rs9682014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:113445674 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATTTGGTCTTAGTAAATTAAATG[C/T]TACTAAATTCCAGGAACTAAGAATA
Phenotype
MIM: 613447
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFAP44 PubMed Links

Gene Details

Gene
CFAP44
Gene Name
cilia and flagella associated protein 44
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164496.1 Intron NP_001157968.1
NM_018338.3 Intron NP_060808.2
XM_005247617.3 Intron XP_005247674.1
XM_006713696.2 Intron XP_006713759.1
XM_011512977.2 Intron XP_011511279.1
XM_011512978.2 Intron XP_011511280.1
XM_011512979.2 Intron XP_011511281.1
XM_011512980.2 Intron XP_011511282.1
XM_011512981.1 Intron XP_011511283.1
XM_011512982.2 Intron XP_011511284.1
XM_011512983.2 Intron XP_011511285.1
XM_011512984.2 Intron XP_011511286.1
XM_017006842.1 Intron XP_016862331.1
XM_017006843.1 Intron XP_016862332.1
XM_017006844.1 Intron XP_016862333.1
XM_017006845.1 Intron XP_016862334.1
XM_017006846.1 Intron XP_016862335.1
XM_017006847.1 Intron XP_016862336.1
XM_017006848.1 Intron XP_016862337.1
XM_017006849.1 Intron XP_016862338.1
Gene
SPICE1
Gene Name
spindle and centriole associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144718.3 Intron NP_653319.1
XM_011512461.2 Intron XP_011510763.1
XM_017005775.1 Intron XP_016861264.1
XM_017005776.1 Intron XP_016861265.1
XM_017005777.1 Intron XP_016861266.1
XM_017005778.1 Intron XP_016861267.1

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