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GAGAGGTGGGCCTGGGAACCCAGCG[A/C]GGACAGCGAGAGGAGGCCGGTGCCT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600188 MIM: 601041 | |||||||||||||||||||||||
Literature Links: |
AES PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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)
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AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
AES - amino-terminal enhancer of split | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130.5 | 672 | Missense Mutation | NP_001121.2 | |||
NM_198969.1 | 672 | Missense Mutation | NP_945320.1 | |||
NM_198970.1 | 672 | Missense Mutation | NP_945321.1 | |||
XM_006722664.1 | 672 | Missense Mutation | XP_006722727.1 |
TLE2 - transducin like enhancer of split 2 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |