Product Details

SNP ID

rs143788676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65321037 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACACCATTCATATTGGCAGTGGC[A/G]GCGGCAGTGACATGTTTGGCGACAT

Phenotype

MIM: 606132

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDC42EP2 PubMed Links

Gene Details

Gene

CDC42EP2

Gene Name

CDC42 effector protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006779.3	742	Missense Mutation	AGC,GGC	S47G	NP_006770.1
XM_017017094.1	742	Missense Mutation	AGC,GGC	S47G	XP_016872583.1

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