Product Details

SNP ID
rs147451921
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:55954280 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGATCTGAAATTTCTGAATAACCA[A/T]TATGCTCATAAACTCAAACTGTTGG
Phenotype
MIM: 611423
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CEP135 PubMed Links

Gene Details

Gene
CEP135
Gene Name
centrosomal protein 135
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025009.4 637 Silent Mutation CAA,CAT Q123H NP_079285.2
XM_005265788.3 637 UTR 5 XP_005265845.1
XM_006714055.2 637 Missense Mutation CAA,CAT Q123H XP_006714118.1
XM_011534412.2 637 Intron XP_011532714.1

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