Product Details

SNP ID
rs147730520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:123346555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTGCTTTTTGCCAAAATCTCTCT[A/G]ATCTGTCGGTCGAGTTCACTTATTA
Phenotype
MIM: 613446
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP120 PubMed Links

Gene Details

Gene
CEP120
Gene Name
centrosomal protein 120
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166226.1 3375 Silent Mutation ATC,ATT I949I NP_001159698.1
NM_153223.3 3375 Silent Mutation ATC,ATT I975I NP_694955.2
XM_005271901.4 3375 Silent Mutation ATC,ATT I930I XP_005271958.1
XM_011543185.2 3375 Silent Mutation ATC,ATT I949I XP_011541487.1
XM_011543186.2 3375 Silent Mutation ATC,ATT I486I XP_011541488.1
XM_017009085.1 3375 Silent Mutation ATC,ATT I486I XP_016864574.1

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