Product Details

SNP ID
rs144300259
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:1345404 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAACAGAAATGTGACCGATATCGA[C/G]TGTGTTAAAGACGCCGACTATTCTA
Phenotype
MIM: 308385 MIM: 430000
Polymorphism
C/G, 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_001267713.1 540 Intron NP_001254642.1
NM_002183.3 540 Missense Mutation GAC,GAG D51E NP_002174.1
XM_005274431.4 540 Missense Mutation GAC,GAG D51E XP_005274488.1
XM_005274432.1 540 Missense Mutation GAC,GAG D51E XP_005274489.1
XM_017029491.1 540 Missense Mutation GAC,GAG D51E XP_016884980.1

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