Product Details

SNP ID

rs139946364

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:43028583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTGCGCCGAACTGACTCACGCC[A/G]GGGAATGCAGCGATCCGCTCAGCTG

Phenotype

MIM: 601555 MIM: 604631

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RND2 PubMed Links

Gene Details

Gene

RND2

Gene Name

Rho family GTPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005440.4	534	Missense Mutation	CAG,CGG	Q196R	NP_005431.1
XM_011525316.1	534	Missense Mutation	CAG,CGG	Q196R	XP_011523618.1
XM_011525317.2	534	Missense Mutation	CAG,CGG	Q168R	XP_011523619.1

Gene

VAT1

Gene Name

vesicle amine transport 1

There are no transcripts associated with this gene.

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