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GGCCATGGGGCCAACTTCCTCAACA[A/G]CTACCTGTATGACGGCGAGGAGATC
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 - 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 |
CEL - carboxyl ester lipase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001807.4 | 450 | Missense Mutation | AAC,AGC | N,S 145 | 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. |