Product Details

SNP ID

rs104894741

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:25012967 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGTCTTCTGGAAGGCCCGCTCC[A/T]GTTCCTCCAGCTGGTAGCTGGTGAA

Phenotype

MIM: 300382

Polymorphism

A/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	1239	Missense Mutation	CAG,CTG	Q343L	NP_620689.1

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