Product Details

SNP ID
rs142545513
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:121631950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATCTCAATGTCAGTGATTACGT[C/T]GTCCGGATCAAAGGAAAGCTCATCA
Phenotype
MIM: 609107 MIM: 601306
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FBXO40 PubMed Links

Gene Details

Gene
FBXO40
Gene Name
F-box protein 40
There are no transcripts associated with this gene.

Gene
HCLS1
Gene Name
hematopoietic cell-specific Lyn substrate 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001292041.1 1375 Missense Mutation AAC,GAC N416D NP_001278970.1
NM_005335.5 1375 Missense Mutation AAC,GAC N453D NP_005326.2

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