Product Details

SNP ID
rs139819371
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:1285802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTGCGAACAGTGGCACCAGCCT[C/G]TAGTCTCAATGTGAGGTTTGACTCC
Phenotype
MIM: 306250 MIM: 425000
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CSF2RA PubMed Links

Gene Details

Gene
CSF2RA
Gene Name
colony stimulating factor 2 receptor alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001161529.1 262 Missense Mutation TCT,TGT S34C NP_001155001.1
NM_001161530.1 262 Intron NP_001155002.1
NM_001161531.1 262 Missense Mutation TCT,TGT S34C NP_001155003.1
NM_001161532.1 262 Intron NP_001155004.1
NM_006140.4 262 Missense Mutation TCT,TGT S34C NP_006131.2
NM_172245.2 262 Missense Mutation TCT,TGT S34C NP_758448.1
NM_172246.2 262 Missense Mutation TCT,TGT S34C NP_758449.1
NM_172247.2 262 Intron NP_758450.1
NM_172249.2 262 Intron NP_758452.1
XM_011546165.2 262 Missense Mutation TCT,TGT S34C XP_011544467.1
XM_011546166.1 262 Missense Mutation TCT,TGT S34C XP_011544468.1
XM_011546167.2 262 Missense Mutation TCT,TGT S34C XP_011544469.1
XM_011546168.2 262 Missense Mutation TCT,TGT S34C XP_011544470.1
XM_011546169.1 262 Missense Mutation TCT,TGT S34C XP_011544471.1
XM_011546170.2 262 Missense Mutation TCT,TGT S34C XP_011544472.1
XM_011546173.1 262 Intron XP_011544475.1
XM_011546174.2 262 Missense Mutation TCT,TGT S34C XP_011544476.1
XM_011546175.2 262 Missense Mutation TCT,TGT S34C XP_011544477.1
XM_017029287.1 262 Missense Mutation TCT,TGT S34C XP_016884776.1
XM_017029288.1 262 Missense Mutation TCT,TGT S34C XP_016884777.1

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