Product Details

SNP ID

rs148229585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65320962 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCAAGGGCAAGAAGGAGAAGCTT[C/T]GGGACCTGCTGTCCTCGGACATGAT

Phenotype

MIM: 606132

Polymorphism

C/T, 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	667	Missense Mutation	CGG,TGG	R22W	NP_006770.1
XM_017017094.1	667	Missense Mutation	CGG,TGG	R22W	XP_016872583.1

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