Product Details

SNP ID
rs188030198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:11139078 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCCTGGTCCGTGGGTGTCTCCA[A/C]GCCTTCCGGGGGCCCCTGGATCCAG
Phenotype
MIM: 300118
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP6 PubMed Links

Gene Details

Gene
ARHGAP6
Gene Name
Rho GTPase activating protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287242.1 2360 Missense Mutation NP_001274171.1
NM_006125.2 2360 Intron NP_006116.2
NM_013423.2 2360 Missense Mutation NP_038267.1
NM_013427.2 2360 Missense Mutation NP_038286.2

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