Product Details

SNP ID
rs148806908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:138498074 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTAGTAAATGCCTGAAATGCTGG[C/G]AAAAATTCCTCGTGTTCTTCCAATT
Phenotype
MIM: 614310
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CEP70 PubMed Links

Gene Details

Gene
CEP70
Gene Name
centrosomal protein 70
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288964.1 2054 Silent Mutation TTC,TTG F545L NP_001275893.1
NM_001288965.1 2054 Silent Mutation TTC,TTG F543L NP_001275894.1
NM_001288966.1 2054 Intron NP_001275895.1
NM_001288967.1 2054 Silent Mutation TTC,TTG F411L NP_001275896.1
NM_001320598.1 2054 Silent Mutation TTC,TTG F563L NP_001307527.1
NM_001320599.1 2054 Silent Mutation TTC,TTG F563L NP_001307528.1
NM_001320600.1 2054 Intron NP_001307529.1
NM_024491.3 2054 Silent Mutation TTC,TTG F563L NP_077817.2
XM_005247805.3 2054 Silent Mutation TTC,TTG F563L XP_005247862.1
XM_011513209.2 2054 Intron XP_011511511.1
XM_017007270.1 2054 Silent Mutation TTC,TTG F563L XP_016862759.1
XM_017007271.1 2054 Silent Mutation TTC,TTG F563L XP_016862760.1
XM_017007272.1 2054 Silent Mutation TTC,TTG F563L XP_016862761.1
XM_017007273.1 2054 Silent Mutation TTC,TTG F543L XP_016862762.1
XM_017007274.1 2054 Silent Mutation TTC,TTG F543L XP_016862763.1
XM_017007275.1 2054 Silent Mutation TTC,TTG F563L XP_016862764.1
XM_017007276.1 2054 Silent Mutation TTC,TTG F445L XP_016862765.1
XM_017007277.1 2054 Silent Mutation TTC,TTG F411L XP_016862766.1
XM_017007278.1 2054 Silent Mutation TTC,TTG F387L XP_016862767.1
XM_017007279.1 2054 Silent Mutation TTC,TTG F337L XP_016862768.1
XM_017007280.1 2054 Silent Mutation TTC,TTG F304L XP_016862769.1
XM_017007281.1 2054 Silent Mutation TTC,TTG F304L XP_016862770.1
XM_017007282.1 2054 Silent Mutation TTC,TTG F304L XP_016862771.1
XM_017007283.1 2054 Silent Mutation TTC,TTG F304L XP_016862772.1
XM_017007284.1 2054 Silent Mutation TTC,TTG F304L XP_016862773.1

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