Product Details

SNP ID
rs2078420
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35461354 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGGAAGTAGCACATCTGAGGTC[A/C]CAGAGCCCATTGGAGGCAGAGCTTG
Phenotype
MIM: 609689 MIM: 601146
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CEP250 PubMed Links

Gene Details

Gene
CEP250
Gene Name
centrosomal protein 250
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318219.1 Intron NP_001305148.1
NM_007186.5 Intron NP_009117.2
XM_005260262.4 Intron XP_005260319.1
XM_005260263.4 Intron XP_005260320.1
XM_005260264.4 Intron XP_005260321.1
XM_006723690.3 Intron XP_006723753.1
XM_006723691.1 Intron XP_006723754.1
XM_006723692.3 Intron XP_006723755.1
XM_006723693.3 Intron XP_006723756.1
XM_006723694.3 Intron XP_006723757.1
XM_011528517.2 Intron XP_011526819.1
XM_011528518.2 Intron XP_011526820.1
XM_011528519.2 Intron XP_011526821.1
XM_017027617.1 Intron XP_016883106.1
XM_017027618.1 Intron XP_016883107.1
XM_017027619.1 Intron XP_016883108.1
Gene
GDF5
Gene Name
growth differentiation factor 5
There are no transcripts associated with this gene.

Gene
MIR1289-1
Gene Name
microRNA 1289-1
There are no transcripts associated with this gene.

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