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AACTCAGGACTGAGGACGACTCCTT[A/G]GACTGCCAAGGGAAGGGAGAGAGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601041 MIM: 612399 | ||||||||||||||||||||
Literature Links: |
TLE2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TLE2 - transducin like enhancer of split 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144761.1 | 2427 | Nonsense Mutation | CAA,TAA | Q,* 698 | NP_001138233.1 | |
NM_001144762.1 | 2427 | Silent Mutation | TCC,TCT | S,S 587 | NP_001138234.1 | |
NM_001300846.1 | 2427 | Silent Mutation | TCC,TCT | S,S 710 | NP_001287775.1 | |
NM_003260.4 | 2427 | Silent Mutation | TCC,TCT | S,S 709 | NP_003251.2 | |
XM_006722864.2 | 2427 | Nonsense Mutation | CAA,TAA | Q,* 685 | XP_006722927.1 | |
XM_011528230.1 | 2427 | Silent Mutation | TCC,TCT | S,S 698 | XP_011526532.1 |
TLE6 - transducin like enhancer of split 6 | ||||||
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There are no transcripts associated with this gene. |