Product Details

SNP ID
rs12273477
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:95979270 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCTGTGTGCTTAGCTGATTGGGT[A/C]TGAGATTCAGACCCCTGAGGGGACC
Phenotype
MIM: 607537
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MAML2 PubMed Links

Gene Details

Gene
MAML2
Gene Name
mastermind like transcriptional coactivator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032427.3 6269 Missense Mutation AGA,ATA R1050I NP_115803.1
XM_011543023.2 6269 Missense Mutation AGA,ATA R903I XP_011541325.1
XM_011543024.2 6269 Missense Mutation AGA,ATA R822I XP_011541326.1
XM_011543025.1 6269 Intron XP_011541327.1

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