Product Details

SNP ID

rs200947207

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73285732 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTTGCCAGGGGAGGGGCCGCCA[C/T]GGCGTACGGGGGAGCCTGGGTGATG

Phenotype

MIM: 605468

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDC42EP4 PubMed Links

Gene Details

Gene

CDC42EP4

Gene Name

CDC42 effector protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012121.4	1308	Missense Mutation	ATG,GTG	M257V	NP_036253.2
XM_005257182.2	1308	Missense Mutation	ATG,GTG	M257V	XP_005257239.1

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