Product Details

SNP ID

rs78618042

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:121631907 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAAAGTGGCCATGGCAACGTCCC[C/T]GCCACCAGCCCTCGTCCACCATCTC

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	1418	Missense Mutation	CAG,CGG	Q430R	NP_001278970.1
NM_005335.5	1418	Missense Mutation	CAG,CGG	Q467R	NP_005326.2

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