Product Details

SNP ID
rs146617729
Assay Type
Functionally tested
NCBI dbSNP Submissions
26
Location
Chr.1:36466446 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGCCCAAAGACACAGTCGTCCT[C/T]CTGGCTTGGGGCTGGGGTTACCAGG
Phenotype
MIM: 138971 MIM: 611979
Polymorphism
C/T, Transition 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 2649 Missense Mutation AAG,GAG K808E NP_000751.1
NM_156039.3 2649 Missense Mutation AAG,GAG K835E NP_724781.1
NM_172313.2 2649 Intron NP_758519.1
XM_005270493.1 2649 Missense Mutation AAG,GAG K807E XP_005270550.1
XM_011540748.2 2649 Missense Mutation AAG,GAG K835E XP_011539050.1
XM_011540749.1 2649 Missense Mutation AAG,GAG K834E XP_011539051.1
XM_011540750.1 2649 Missense Mutation AAG,GAG K611E XP_011539052.1
XM_017000370.1 2649 Missense Mutation AAG,GAG K835E XP_016855859.1
Gene
MRPS15
Gene Name
mitochondrial ribosomal protein S15
There are no transcripts associated with this gene.

View Full Product Details