Product Details

SNP ID
rs189502737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35455212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAGCTCAATCGCGGAGCAACTAG[C/T]CGGGCGTCTGCGGGAGCCGAGCGTG
Phenotype
MIM: 609689 MIM: 601146
Polymorphism
C/T, Transition 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 72 Intron NP_001305148.1
NM_007186.5 72 Intron NP_009117.2
XM_005260262.4 72 UTR 5 XP_005260319.1
XM_005260263.4 72 UTR 5 XP_005260320.1
XM_005260264.4 72 UTR 5 XP_005260321.1
XM_006723690.3 72 UTR 5 XP_006723753.1
XM_006723691.1 72 UTR 5 XP_006723754.1
XM_006723692.3 72 UTR 5 XP_006723755.1
XM_006723693.3 72 UTR 5 XP_006723756.1
XM_006723694.3 72 UTR 5 XP_006723757.1
XM_011528517.2 72 UTR 5 XP_011526819.1
XM_011528518.2 72 UTR 5 XP_011526820.1
XM_011528519.2 72 Intron XP_011526821.1
XM_017027617.1 72 UTR 5 XP_016883106.1
XM_017027618.1 72 Intron XP_016883107.1
XM_017027619.1 72 Intron XP_016883108.1
Gene
GDF5
Gene Name
growth differentiation factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000557.4 72 Intron NP_000548.2
NM_001319138.1 72 Intron NP_001306067.1
XM_011529075.2 72 Intron XP_011527377.1
Gene
MIR1289-1
Gene Name
microRNA 1289-1
There are no transcripts associated with this gene.

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