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GTTGGTTGCTATGGAAACATGGATG[A/C]GTTTACCCAAGAGGAACTCCGGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 301300 MIM: 300773 MIM: 311790 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALAS2 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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ALAS2 - 5'-aminolevulinate synthase 2 | ||||||
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There are no transcripts associated with this gene. |
APEX2 - apurinic/apyrimidinic endodeoxyribonuclease 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271748.1 | 453 | Intron | NP_001258677.1 | |||
NM_014481.3 | 453 | Missense Mutation | GAG,GCG | E,A 118 | NP_055296.2 |
PFKFB1 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | ||||||
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There are no transcripts associated with this gene. |