Product Details

SNP ID
rs200808184
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:101728846 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTCTTGTGATAGGCCATGGAAC[A/G]GATCAATAGCTGCACAGCTCTACAG
Phenotype
MIM: 615864
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP97 PubMed Links

Gene Details

Gene
CEP97
Gene Name
centrosomal protein 97
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303401.1 440 Missense Mutation CAG,CGG Q119R NP_001290330.1
NM_024548.3 440 Missense Mutation CAG,CGG Q119R NP_078824.2
XM_006713743.3 440 Intron XP_006713806.1
XM_011513127.1 440 Missense Mutation CAG,CGG Q3R XP_011511429.1
XM_017007178.1 440 Intron XP_016862667.1

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