Product Details

SNP ID

hCV27536080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48684340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGCTGCCCCCTGGAGCTGAGCAC[C/T]GGACCAAGGAGCATTGTGGGGCTGT

Phenotype

MIM: 300392

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

WAS PubMed Links

Gene Details

Gene

WAS

Gene Name

Wiskott-Aldrich syndrome

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000377.2	247	Missense Mutation	CGG,TGG	R64W	NP_000368.1

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