Product Details

SNP ID
rs144099565
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:25015600 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGCGGAGCAGGCAAGCTCTGCGC[G/T]GCTCCCAGCAACCGCATTTTGCACG
Phenotype
MIM: 300382
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARX PubMed Links

Gene Details

Gene
ARX
Gene Name
aristaless related homeobox
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139058.2 349 Silent Mutation GCA,GCC A46A NP_620689.1

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