Product Details

SNP ID

rs190910161

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:25004688 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCTTTAGCACACCTCCTTGCC[C/T]GTGCTGGTGCCCGGCAGGATGTTGA

Phenotype

MIM: 300382 MIM: 312040

Polymorphism

C/T, 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	1882	Silent Mutation	ACA,ACG	T557T	NP_620689.1

Gene

POLA1

Gene Name

DNA polymerase alpha 1, catalytic subunit

There are no transcripts associated with this gene.

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