Product Details

SNP ID
rs139857045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48684416 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTCCTACTTCATCCGCCTTTACG[A/G]CCTTCAGGTGACCCCCCCACCCCCG
Phenotype
MIM: 300392
Polymorphism
A/G, 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_000377.2 328 Missense Mutation GAC,GGC D89G NP_000368.1
XM_011543977.2 328 Missense Mutation GAC,GGC D89G XP_011542279.1
XM_017029786.1 328 Missense Mutation GAC,GGC D89G XP_016885275.1

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