Product Details

SNP ID
rs113163825
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:36466478 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGCTGGGGTTACCAGGGTCCCC[A/C]AGGGGCTGGCCTGGAACCAGAGGTT
Phenotype
MIM: 138971 MIM: 611979
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CSF3R PubMed Links

Gene Details

Gene
CSF3R
Gene Name
colony stimulating factor 3 receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000760.3 2617 Missense Mutation TGG,TTG W797L NP_000751.1
NM_156039.3 2617 Missense Mutation TGG,TTG W824L NP_724781.1
NM_172313.2 2617 Intron NP_758519.1
XM_005270493.1 2617 Missense Mutation TGG,TTG W796L XP_005270550.1
XM_011540748.2 2617 Missense Mutation TGG,TTG W824L XP_011539050.1
XM_011540749.1 2617 Missense Mutation TGG,TTG W823L XP_011539051.1
XM_011540750.1 2617 Missense Mutation TGG,TTG W600L XP_011539052.1
XM_017000370.1 2617 Missense Mutation TGG,TTG W824L XP_016855859.1
Gene
MRPS15
Gene Name
mitochondrial ribosomal protein S15
There are no transcripts associated with this gene.

View Full Product Details