Product Details

SNP ID
rs145436175
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:123346554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATTGCTTTTTGCCAAAATCTCTC[C/T]GATCTGTCGGTCGAGTTCACTTATT
Phenotype
MIM: 613446
Polymorphism
C/T, 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 3376 Missense Mutation AGA,GGA R950G NP_001159698.1
NM_153223.3 3376 Missense Mutation AGA,GGA R976G NP_694955.2
XM_005271901.4 3376 Missense Mutation AGA,GGA R931G XP_005271958.1
XM_011543185.2 3376 Missense Mutation AGA,GGA R950G XP_011541487.1
XM_011543186.2 3376 Missense Mutation AGA,GGA R487G XP_011541488.1
XM_017009085.1 3376 Missense Mutation AGA,GGA R487G XP_016864574.1

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