Product Details

SNP ID
rs201699446
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:36466809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGTGATGGGTGGCGTGCCAAGGC[C/T]GGGCAGCTGGAAGGCATCCTGCACA
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 2643 Missense Mutation AGC,GGC S687G NP_000751.1
NM_156039.3 2643 Missense Mutation AGC,GGC S714G NP_724781.1
NM_172313.2 2643 Missense Mutation AGC,GGC S687G NP_758519.1
XM_005270493.1 2643 Missense Mutation AGC,GGC S686G XP_005270550.1
XM_011540748.2 2643 Missense Mutation AGC,GGC S714G XP_011539050.1
XM_011540749.1 2643 Missense Mutation AGC,GGC S713G XP_011539051.1
XM_011540750.1 2643 Missense Mutation AGC,GGC S490G XP_011539052.1
XM_017000370.1 2643 Missense Mutation AGC,GGC S714G XP_016855859.1
Gene
MRPS15
Gene Name
mitochondrial ribosomal protein S15
There are no transcripts associated with this gene.

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