Product Details

SNP ID
rs104894743
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:25012937 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGCGCATACCTGGTGAAGACGTCC[A/G]GGTAGTGCGTCTTCTGGAAGGCCCG
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 1269 Missense Mutation CCG,CTG P353L NP_620689.1

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