Product Details

SNP ID

rs199769843

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:92741540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTTGGCATCATCAAGGACTATG[C/T]AGACGCTTCTGAGATTTCCTCATCA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLEKHG7 PubMed Links

Gene Details

Gene

PLEKHG7

Gene Name

pleckstrin homology and RhoGEF domain containing G7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004330.2	379	Missense Mutation	GCA,GTA	A50V	NP_001004330.1

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