Product Details

SNP ID

rs200599554

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:64547735 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGACAATGTTGCTGTCTGGTGTAC[A/G]GTGTTTTAACCGGGTGTTTACCTTC

Phenotype

MIM: 605532

Polymorphism

A/G, Transition 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	1924	Missense Mutation	CGT,TGT	R646C	NP_073576.1
XM_005257585.3	1924	Missense Mutation	CGT,TGT	R633C	XP_005257642.1
XM_011525128.1	1924	Missense Mutation	CGT,TGT	R648C	XP_011523430.1

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