Product Details

SNP ID
rs11923128
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:113443852 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAGCACATAAAGTGGCTACAATA[G/T]TGCCTAGTATGTAGTTAACAGTTAA
Phenotype
MIM: 613447
Polymorphism
G/T, Transversion 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 4314 Intron NP_001157968.1
NM_018338.3 4314 Intron NP_060808.2
XM_005247617.3 4314 Intron XP_005247674.1
XM_006713696.2 4314 Intron XP_006713759.1
XM_011512977.2 4314 Intron XP_011511279.1
XM_011512978.2 4314 Intron XP_011511280.1
XM_011512979.2 4314 Intron XP_011511281.1
XM_011512980.2 4314 Intron XP_011511282.1
XM_011512981.1 4314 Intron XP_011511283.1
XM_011512982.2 4314 Intron XP_011511284.1
XM_011512983.2 4314 Intron XP_011511285.1
XM_011512984.2 4314 Intron XP_011511286.1
XM_017006842.1 4314 Intron XP_016862331.1
XM_017006843.1 4314 Intron XP_016862332.1
XM_017006844.1 4314 Intron XP_016862333.1
XM_017006845.1 4314 Intron XP_016862334.1
XM_017006846.1 4314 Intron XP_016862335.1
XM_017006847.1 4314 Intron XP_016862336.1
XM_017006848.1 4314 Intron XP_016862337.1
XM_017006849.1 4314 Intron XP_016862338.1
Gene
CFAP44-AS1
Gene Name
CFAP44 antisense RNA 1
There are no transcripts associated with this gene.

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 4314 UTR 3 NP_653319.1
XM_011512461.2 4314 Intron XP_011510763.1
XM_017005775.1 4314 Intron XP_016861264.1
XM_017005776.1 4314 Intron XP_016861265.1
XM_017005777.1 4314 Intron XP_016861266.1
XM_017005778.1 4314 Intron XP_016861267.1

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