Product Details

SNP ID
rs199981819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:11139069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTTGGCCTCCCTGGTCCGTGG[C/G]TGTCTCCACGCCTTCCGGGGGCCCC
Phenotype
MIM: 300118
Polymorphism
C/G, 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 2369 Missense Mutation CCC,GCC P727A NP_001274171.1
NM_006125.2 2369 Intron NP_006116.2
NM_013423.2 2369 Missense Mutation CCC,GCC P704A NP_038267.1
NM_013427.2 2369 Missense Mutation CCC,GCC P907A NP_038286.2

View Full Product Details