Product Details

SNP ID

rs145029548

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35463597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTGCTGCAGTACCGAAGCTGGT[G/T]CCAAGAGCTGGAGAAGCGGCTAGAA

Phenotype

MIM: 609689 MIM: 601146

Polymorphism

G/T, 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	856	UTR 5			NP_001305148.1
NM_007186.5	856	Missense Mutation	TGC,TTC	C70F	NP_009117.2
XM_005260262.4	856	Missense Mutation	TGC,TTC	C70F	XP_005260319.1
XM_005260263.4	856	Missense Mutation	TGC,TTC	C70F	XP_005260320.1
XM_005260264.4	856	Missense Mutation	TGC,TTC	C70F	XP_005260321.1
XM_006723690.3	856	Missense Mutation	TGC,TTC	C70F	XP_006723753.1
XM_006723691.1	856	Missense Mutation	TGC,TTC	C70F	XP_006723754.1
XM_006723692.3	856	Missense Mutation	TGC,TTC	C70F	XP_006723755.1
XM_006723693.3	856	Missense Mutation	TGC,TTC	C70F	XP_006723756.1
XM_006723694.3	856	Missense Mutation	TGC,TTC	C70F	XP_006723757.1
XM_011528517.2	856	Missense Mutation	TGC,TTC	C70F	XP_011526819.1
XM_011528518.2	856	UTR 5			XP_011526820.1
XM_011528519.2	856	Intron			XP_011526821.1
XM_017027617.1	856	Missense Mutation	TGC,TTC	C70F	XP_016883106.1
XM_017027618.1	856	Intron			XP_016883107.1
XM_017027619.1	856	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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