Product Details

SNP ID
rs2302301
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3054091 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGCTGCCTGGGGCCCACCTGTCCCC[C/T]GCCCACCCGCCCAGGTCCCCATACA
Phenotype
MIM: 600188 MIM: 601041
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
AES PubMed Links

Gene Details

Gene
AES
Gene Name
amino-terminal enhancer of split
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130.5 Intron NP_001121.2
NM_198969.1 Intron NP_945320.1
NM_198970.1 Intron NP_945321.1
XM_006722664.1 Intron XP_006722727.1
Gene
TLE2
Gene Name
transducin like enhancer of split 2
There are no transcripts associated with this gene.

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