Product Details

SNP ID
rs202070279
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:1345407 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGAAATGTGACCGATATCGAGTG[A/T]GTTAAAGACGCCGACTATTCTATGC
Phenotype
MIM: 308385 MIM: 430000
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
IL3RA PubMed Links

Gene Details

Gene
IL3RA
Gene Name
interleukin 3 receptor subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267713.1 543 Intron NP_001254642.1
NM_002183.3 543 Nonsense Mutation TGA,TGT *52C NP_002174.1
XM_005274431.4 543 Nonsense Mutation TGA,TGT *52C XP_005274488.1
XM_005274432.1 543 Nonsense Mutation TGA,TGT *52C XP_005274489.1
XM_017029491.1 543 Nonsense Mutation TGA,TGT *52C XP_016884980.1

View Full Product Details