Product Details

SNP ID
rs200423389
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:37645941 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGACTCCTCTGACTTAGTCTTT[A/C]CCTTGATGAGCTCGCATGGGGTGGG
Phenotype
MIM: 606133
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CDC42EP3 PubMed Links

Gene Details

Gene
CDC42EP3
Gene Name
CDC42 effector protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270436.1 1656 Missense Mutation NP_001257365.1
NM_001270437.1 1656 Missense Mutation NP_001257366.1
NM_001270438.1 1656 Missense Mutation NP_001257367.1
NM_006449.4 1656 Missense Mutation NP_006440.2
XM_011532482.2 1656 Missense Mutation XP_011530784.1

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