Product Details

SNP ID

rs182264437

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:144379913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCCCACAGGCTGGCTGGAGGGC[A/G]TGAGGCTCTCAGACGGGGAGCGAGG

Phenotype

MIM: 600888

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGEF5 PubMed Links

Gene Details

Gene

ARHGEF5

Gene Name

Rho guanine nucleotide exchange factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005435.3	4769	Missense Mutation	ATG,GTG	M1551V	NP_005426.2
XM_017012623.1	4769	Intron			XP_016868112.1

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