Product Details

SNP ID
rs199744295
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41888772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGAACTCAGAAGAGCAAAACAG[A/C]CAGTTCCAGAGCCTGGAGCAGGTGA
Phenotype
MIM: 601855 MIM: 112205
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ARHGEF1 PubMed Links

Gene Details

Gene
ARHGEF1
Gene Name
Rho guanine nucleotide exchange factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004706.3 589 Missense Mutation AGA,AGC R44S NP_004697.2
NM_198977.1 589 Missense Mutation AGA,AGC R44S NP_945328.1
NM_199002.1 589 Missense Mutation AGA,AGC R59S NP_945353.1
XM_005259386.4 589 Missense Mutation AGA,AGC R59S XP_005259443.1
XM_005259390.4 589 Missense Mutation AGA,AGC R59S XP_005259447.1
XM_011527468.2 589 Missense Mutation AGA,AGC R59S XP_011525770.1
Gene
CD79A
Gene Name
CD79a molecule
There are no transcripts associated with this gene.

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