Product Details

SNP ID
rs200530781
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48683983 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGAGATGCTTGGACGAAAATGC[G/T]TGGTGAGCTGGGGATCTCCTGCCCC
Phenotype
MIM: 300392
Polymorphism
G/T, 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_000377.2 192 Missense Mutation GTG,TTG V44L NP_000368.1
XM_011543977.2 192 Missense Mutation GTG,TTG V44L XP_011542279.1
XM_017029786.1 192 Missense Mutation GTG,TTG V44L XP_016885275.1

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