Product Details

SNP ID
rs142182747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6213378 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTCCCGCAGCGCCATCAGCCTCC[C/G]GTGTAGCTCCACCAGCTCATCCGTG
Phenotype
MIM: 159556
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MLLT1 PubMed Links

Gene Details

Gene
MLLT1
Gene Name
MLLT1, super elongation complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005934.3 1648 Missense Mutation CGG,GGG R504G NP_005925.2
XM_011528021.1 1648 Missense Mutation CGG,GGG R545G XP_011526323.1
XM_011528022.1 1648 Missense Mutation CGG,GGG R506G XP_011526324.1
XM_011528023.1 1648 Missense Mutation CGG,GGG R503G XP_011526325.1
XM_017026819.1 1648 Missense Mutation CGG,GGG R472G XP_016882308.1

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