Product Details

SNP ID
rs141013353
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:113445316 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGACTTGACTTCACTTATGATAC[A/G]TGGGTAGAAAGAGCAAACCAGCCTT
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 2744 Intron NP_001157968.1
NM_018338.3 2744 Intron NP_060808.2
XM_005247617.3 2744 Intron XP_005247674.1
XM_006713696.2 2744 Intron XP_006713759.1
XM_011512977.2 2744 Intron XP_011511279.1
XM_011512978.2 2744 Intron XP_011511280.1
XM_011512979.2 2744 Intron XP_011511281.1
XM_011512980.2 2744 Intron XP_011511282.1
XM_011512981.1 2744 Intron XP_011511283.1
XM_011512982.2 2744 Intron XP_011511284.1
XM_011512983.2 2744 Intron XP_011511285.1
XM_011512984.2 2744 Intron XP_011511286.1
XM_017006842.1 2744 Intron XP_016862331.1
XM_017006843.1 2744 Intron XP_016862332.1
XM_017006844.1 2744 Intron XP_016862333.1
XM_017006845.1 2744 Intron XP_016862334.1
XM_017006846.1 2744 Intron XP_016862335.1
XM_017006847.1 2744 Intron XP_016862336.1
XM_017006848.1 2744 Intron XP_016862337.1
XM_017006849.1 2744 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 2744 Silent Mutation CAC,CAT H853H NP_653319.1
XM_011512461.2 2744 Silent Mutation CAC,CAT H867H XP_011510763.1
XM_017005775.1 2744 Silent Mutation CAC,CAT H867H XP_016861264.1
XM_017005776.1 2744 Silent Mutation CAC,CAT H865H XP_016861265.1
XM_017005777.1 2744 Silent Mutation CAC,CAT H853H XP_016861266.1
XM_017005778.1 2744 Silent Mutation CAC,CAT H853H XP_016861267.1

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