Product Details

SNP ID
rs190392633
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3002422 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGCTGGTATTTCTCCGGCTTGC[A/G]GACGTGCAGGATCTCCACGTTGCTA
Phenotype
MIM: 601041 MIM: 612399
Polymorphism
A/G, 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 2278 Missense Mutation CGC,TGC R674C NP_001138233.1
NM_001144762.1 2278 Missense Mutation CGC,TGC R538C NP_001138234.1
NM_001300846.1 2278 Missense Mutation CGC,TGC R661C NP_001287775.1
NM_003260.4 2278 Missense Mutation CGC,TGC R660C NP_003251.2
XM_006722864.2 2278 Missense Mutation CGC,TGC R661C XP_006722927.1
XM_011528230.1 2278 Missense Mutation CGC,TGC R649C 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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