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AGAATCACACACCAGTTTCCTTGAT[A/C]GTAGTAGCTTTGCAGAATTCTGACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613306 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALKBH8 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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ALKBH8 - alkB homolog 8, tRNA methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301010.1 | 1872 | Missense Mutation | NP_001287939.1 | |||
NM_138775.2 | 1872 | Missense Mutation | NP_620130.2 | |||
XM_005271728.2 | 1872 | Missense Mutation | XP_005271785.1 | |||
XM_005271729.3 | 1872 | Missense Mutation | XP_005271786.1 | |||
XM_017018553.1 | 1872 | Missense Mutation | XP_016874042.1 | |||
XM_017018554.1 | 1872 | Missense Mutation | XP_016874043.1 | |||
XM_017018555.1 | 1872 | Missense Mutation | XP_016874044.1 | |||
XM_017018556.1 | 1872 | Missense Mutation | XP_016874045.1 | |||
XM_017018557.1 | 1872 | Intron | XP_016874046.1 |