Product Details

SNP ID
rs1055667
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:82818019 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAACTTCAGCTAATGCTAGCTC[A/G]AGAGACTCTGCAACTCATGAGAGCG
Phenotype
MIM: 612393
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
WHAMM PubMed Links

Gene Details

Gene
WHAMM
Gene Name
WAS protein homolog associated with actin, golgi membranes and microtubules
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080435.2 496 Missense Mutation CAA,CGA Q345R NP_001073904.1
XM_005272421.4 496 Missense Mutation CAA,CGA Q132R XP_005272478.1
XM_005272422.3 496 Missense Mutation CAA,CGA Q115R XP_005272479.1
XM_005272423.4 496 Missense Mutation CAA,CGA Q115R XP_005272480.1
XM_011521232.2 496 Missense Mutation CAA,CGA Q72R XP_011519534.1
XM_017021923.1 496 Missense Mutation CAA,CGA Q345R XP_016877412.1

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