Product Details

SNP ID

rs200840051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153909444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAGCCCCGTCTTCTTGCTCACC[A/G]GTGGACCAGCTCCGATGCCAGGAGG

Phenotype

MIM: 300023 MIM: 300538

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP4 PubMed Links

Gene Details

Gene

ARHGAP4

Gene Name

Rho GTPase activating protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164741.1	2684	Missense Mutation	CGG,TGG	R876W	NP_001158213.1
NM_001666.4	2684	Missense Mutation	CGG,TGG	R836W	NP_001657.3

Gene

AVPR2

Gene Name

arginine vasopressin receptor 2

There are no transcripts associated with this gene.

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