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GGGCAGCCAGAGGCACTTCCTGCAT[A/G]ACAGCAGATAGCATGTCTTTCATGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 606953 MIM: 613898 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GALE 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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GALE - UDP-galactose-4-epimerase | ||||||
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There are no transcripts associated with this gene. |
HMGCL - 3-hydroxymethyl-3-methylglutaryl-CoA lyase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000191.2 | 494 | Silent Mutation | GTC,GTT | V,V 221 | NP_000182.2 | |
NM_001166059.1 | 494 | Silent Mutation | GTC,GTT | V,V 150 | NP_001159531.1 |