Product Details

SNP ID
rs58703340
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:113445073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAGAAAGTATTAAAATACAAAAC[G/T]TTAACTTCTCTACAGTCAAAGTTTC
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_001164496.1 118 Intron NP_001157968.1
NM_018338.3 118 Intron NP_060808.2
XM_005247617.3 118 Intron XP_005247674.1
XM_006713696.2 118 UTR 5 XP_006713759.1
XM_011512977.2 118 UTR 5 XP_011511279.1
XM_011512978.2 118 Intron XP_011511280.1
XM_011512979.2 118 Intron XP_011511281.1
XM_011512980.2 118 UTR 5 XP_011511282.1
XM_011512981.1 118 UTR 5 XP_011511283.1
XM_011512982.2 118 UTR 5 XP_011511284.1
XM_011512983.2 118 UTR 5 XP_011511285.1
XM_011512984.2 118 UTR 5 XP_011511286.1
XM_017006842.1 118 UTR 5 XP_016862331.1
XM_017006843.1 118 UTR 5 XP_016862332.1
XM_017006844.1 118 UTR 5 XP_016862333.1
XM_017006845.1 118 UTR 5 XP_016862334.1
XM_017006846.1 118 Intron XP_016862335.1
XM_017006847.1 118 Intron XP_016862336.1
XM_017006848.1 118 UTR 5 XP_016862337.1
XM_017006849.1 118 UTR 5 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_144718.3 118 UTR 3 NP_653319.1
XM_011512461.2 118 UTR 3 XP_011510763.1
XM_017005775.1 118 Intron XP_016861264.1
XM_017005776.1 118 UTR 3 XP_016861265.1
XM_017005777.1 118 UTR 3 XP_016861266.1
XM_017005778.1 118 UTR 3 XP_016861267.1

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