Product Details

SNP ID

rs199588956

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:134482848 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCATAAGGCAGCTTGTCTTCTCG[C/T]CAAGCATCATCAATCAAATCCAAGA

Phenotype

MIM: 614484 MIM: 614724

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANAPC13 PubMed Links

Gene Details

Gene

ANAPC13

Gene Name

anaphase promoting complex subunit 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242374.1	788	Nonsense Mutation	TGA,TGG	*19W	NP_001229303.1
NM_001242375.1	788	Nonsense Mutation	TGA,TGG	*19W	NP_001229304.1
NM_015391.3	788	Intron			NP_056206.1

Gene

CEP63

Gene Name

centrosomal protein 63

There are no transcripts associated with this gene.

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