Product Details

SNP ID
rs77292473
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3002380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGAGGCAAACTTCAGGGACAGCA[C/T]GCAGCTCTCGTGGAGGTGCAGCTGG
Phenotype
MIM: 601041 MIM: 612399
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
TLE2 PubMed Links

Gene Details

Gene
TLE2
Gene Name
transducin like enhancer of split 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144761.1 2320 Missense Mutation ATG,GTG M688V NP_001138233.1
NM_001144762.1 2320 Missense Mutation ATG,GTG M552V NP_001138234.1
NM_001300846.1 2320 Missense Mutation ATG,GTG M675V NP_001287775.1
NM_003260.4 2320 Missense Mutation ATG,GTG M674V NP_003251.2
XM_006722864.2 2320 Missense Mutation ATG,GTG M675V XP_006722927.1
XM_011528230.1 2320 Missense Mutation ATG,GTG M663V XP_011526532.1
Gene
TLE6
Gene Name
transducin like enhancer of split 6
There are no transcripts associated with this gene.

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