Product Details

SNP ID

rs148192611

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:64547799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATCTTTCCAAGTCCACAAATAAT[A/G]AGCTGTGAAAATAGTACACAGTAAT

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	1860	Silent Mutation	CTC,CTT	L624L	NP_073576.1
XM_005257585.3	1860	Silent Mutation	CTC,CTT	L611L	XP_005257642.1
XM_011525128.1	1860	Silent Mutation	CTC,CTT	L626L	XP_011523430.1

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