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GATCGCCACACGCGGAAACGTCATC[A/G]TGGTCACCTTCAACTACCGTGTCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114840 MIM: 604890 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEL PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CEL - carboxyl ester lipase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001807.4 | 497 | Missense Mutation | ATG,GTG | M,V 161 | NP_001798.2 |
GTF3C5 - general transcription factor IIIC subunit 5 | ||||||
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There are no transcripts associated with this gene. |
LOC100996574 - uncharacterized LOC100996574 | ||||||
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There are no transcripts associated with this gene. |