Product Details

SNP ID
rs79487944
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:64545886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCCACATGTTTCTTCAATGGCTG[G/T]TAGCAGCTTTTCATATAGCTTTTCA
Phenotype
MIM: 605532
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CEP95 PubMed Links

Gene Details

Gene
CEP95
Gene Name
centrosomal protein 95
There are no transcripts associated with this gene.

Gene
SMURF2
Gene Name
SMAD specific E3 ubiquitin protein ligase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022739.3 2197 Missense Mutation ACA,CCA T737P NP_073576.1
XM_005257585.3 2197 Missense Mutation ACA,CCA T724P XP_005257642.1
XM_011525128.1 2197 Missense Mutation ACA,CCA T739P XP_011523430.1

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