Product Details

SNP ID

rs141605347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48684334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACCTGGCGCTGCCCCCTGGAGCT[C/G]AGCACTGGACCAAGGAGCATTGTGG

Phenotype

MIM: 300392

Polymorphism

C/G, Transversion 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	246	Missense Mutation	CAG,GAG	Q62E	NP_000368.1
XM_011543977.2	246	Missense Mutation	CAG,GAG	Q62E	XP_011542279.1
XM_017029786.1	246	Missense Mutation	CAG,GAG	Q62E	XP_016885275.1

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