Product Details

SNP ID
rs28936077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:25015640 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTTGCACGGGCTCCTCCGGCCC[A/G]GGATGCTGTCGATGCAGTAGGAGGA
Phenotype
MIM: 300382
Polymorphism
A/G, Transition 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_139058.2 309 Missense Mutation CCG,CTG P33L NP_620689.1

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