Product Details

SNP ID

rs191858058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:59269020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTGCCCCTAGAGGGCCTGCCAC[G/T]GCTTCCCGATGGCCTGGATGTGCTC

Phenotype

MIM: 601881

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RAX PubMed Links

Gene Details

Gene

RAX

Gene Name

retina and anterior neural fold homeobox

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013435.2	1212	Missense Mutation	CAG,CCG	Q342P	NP_038463.2

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