Product Details

SNP ID
rs114435947
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:150115797 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTATCCTCTGCTTCCGCCCGAGGC[A/G]CAGGGCACCCCGAATCCGGCAACTG
Phenotype
MIM: 164770 MIM: 173410
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CSF1R PubMed Links

Gene Details

Gene
CSF1R
Gene Name
colony stimulating factor 1 receptor
There are no transcripts associated with this gene.

Gene
PDGFRB
Gene Name
platelet derived growth factor receptor beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002609.3 4236 Missense Mutation GCG,GTG A1096V NP_002600.1
XM_005268464.2 4236 Missense Mutation GCG,GTG A1032V XP_005268521.1
XM_011537658.1 4236 Missense Mutation GCG,GTG A1096V XP_011535960.1
XM_011537659.1 4236 Missense Mutation GCG,GTG A1096V XP_011535961.1

View Full Product Details