Product Details

SNP ID
rs2054823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:113445262 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTTAAAAGTCAGAGCAGGGAAAGGG[A/G]AGTAATAAATTATTAAGAACAAACT
Phenotype
MIM: 613447
Polymorphism
A/G, 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 2798 Intron NP_001157968.1
NM_018338.3 2798 Intron NP_060808.2
XM_005247617.3 2798 Intron XP_005247674.1
XM_006713696.2 2798 Intron XP_006713759.1
XM_011512977.2 2798 Intron XP_011511279.1
XM_011512978.2 2798 Intron XP_011511280.1
XM_011512979.2 2798 Intron XP_011511281.1
XM_011512980.2 2798 Intron XP_011511282.1
XM_011512981.1 2798 Intron XP_011511283.1
XM_011512982.2 2798 Intron XP_011511284.1
XM_011512983.2 2798 Intron XP_011511285.1
XM_011512984.2 2798 Intron XP_011511286.1
XM_017006842.1 2798 Intron XP_016862331.1
XM_017006843.1 2798 Intron XP_016862332.1
XM_017006844.1 2798 Intron XP_016862333.1
XM_017006845.1 2798 Intron XP_016862334.1
XM_017006846.1 2798 Intron XP_016862335.1
XM_017006847.1 2798 Intron XP_016862336.1
XM_017006848.1 2798 Intron XP_016862337.1
XM_017006849.1 2798 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 2798 UTR 3 NP_653319.1
XM_011512461.2 2798 UTR 3 XP_011510763.1
XM_017005775.1 2798 Intron XP_016861264.1
XM_017005776.1 2798 UTR 3 XP_016861265.1
XM_017005777.1 2798 UTR 3 XP_016861266.1
XM_017005778.1 2798 UTR 3 XP_016861267.1

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