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GTCACCCCAGAGACGTGATCCCGGA[C/T]GCGCTCTAGAACTGGGATCCAGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610602 MIM: 191525 MIM: 612492 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALKBH2 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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ALKBH2 - alkB homolog 2, alpha-ketoglutarate dependent dioxygenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001655.2 | 814 | Missense Mutation | ATC,GTC | I,V 141 | NP_001001655.1 | |
NM_001145374.1 | 814 | Missense Mutation | ATC,GTC | I,V 141 | NP_001138846.1 | |
NM_001145375.1 | 814 | Missense Mutation | ATC,GTC | I,V 141 | NP_001138847.1 | |
NM_001205179.1 | 814 | Intron | NP_001192108.1 | |||
NM_001205180.1 | 814 | Intron | NP_001192109.1 | |||
XM_005253835.4 | 814 | Missense Mutation | ATC,GTC | I,V 141 | XP_005253892.1 | |
XM_005253836.1 | 814 | Intron | XP_005253893.1 |
UNG - uracil DNA glycosylase | ||||||
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There are no transcripts associated with this gene. |
USP30 - ubiquitin specific peptidase 30 | ||||||
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There are no transcripts associated with this gene. |