Product Details

SNP ID
rs1133984
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:82818053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAACTCATGAGAGCGAAAGAGTT[A/G]TGTTTAAATCACAAAAGAGCTGAAA
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_001080435.2 530 Silent Mutation TTA,TTG L356L NP_001073904.1
XM_005272421.4 530 Silent Mutation TTA,TTG L143L XP_005272478.1
XM_005272422.3 530 Silent Mutation TTA,TTG L126L XP_005272479.1
XM_005272423.4 530 Silent Mutation TTA,TTG L126L XP_005272480.1
XM_011521232.2 530 Silent Mutation TTA,TTG L83L XP_011519534.1
XM_017021923.1 530 Silent Mutation TTA,TTG L356L XP_016877412.1

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