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TTAAATACGCCATCTGACAAATCAG[A/G]AGATGGAAGGCTAATTTATACTGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600788 MIM: 612418 | ||||||||||||||||||||
Literature Links: |
TCEB1 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 |
TCEB1 - transcription elongation factor B subunit 1 | ||||||
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There are no transcripts associated with this gene. |
TMEM70 - transmembrane protein 70 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040613.2 | 409 | Missense Mutation | GAA,GGA | E,G 90 | NP_001035703.1 | |
NM_017866.5 | 409 | Missense Mutation | GAA,GGA | E,G 90 | NP_060336.3 |