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AGTTTACCTTTTTTTTTTTAAACAG[C/T]GCAGAAAAGGAACCAATATTTCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602019 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC105375744 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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LOC105375744 - uncharacterized LOC105375744 | ||||||
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There are no transcripts associated with this gene. |
SQLE - squalene epoxidase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003129.3 | 1218 | Missense Mutation | CGC,TGC | R,C 98 | NP_003120.2 | |
XM_011517246.2 | 1218 | Missense Mutation | CGC,TGC | R,C 40 | XP_011515548.1 |