Product Details

SNP ID
rs139072004
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40015819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGCAAGTGAGGAAGATCCAGGGC[A/G]ATGGCGCAGCGCTCCAGGAGAAGCT
Phenotype
MIM: 138970 MIM: 607000
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CSF3 PubMed Links

Gene Details

Gene
CSF3
Gene Name
colony stimulating factor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000759.3 283 Missense Mutation AAT,GAT N57D NP_000750.1
NM_001178147.1 283 Missense Mutation AAT,GAT N57D NP_001171618.1
NM_172219.2 283 Missense Mutation AAT,GAT N57D NP_757373.1
NM_172220.2 283 Missense Mutation AAT,GAT N57D NP_757374.2
Gene
MED24
Gene Name
mediator complex subunit 24
There are no transcripts associated with this gene.

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