Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGTGGTACCAGTGCGTGTTGGTCG[C/G]GTGGTTCATCATTAGTAAGCTCCCG
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1078 | Missense Mutation | CCG,GCG | P,A 229 | NP_001001655.1 | |
NM_001145374.1 | 1078 | Missense Mutation | CCG,GCG | P,A 229 | NP_001138846.1 | |
NM_001145375.1 | 1078 | Missense Mutation | CCG,GCG | P,A 229 | NP_001138847.1 | |
NM_001205179.1 | 1078 | UTR 3 | NP_001192108.1 | |||
NM_001205180.1 | 1078 | UTR 3 | NP_001192109.1 | |||
XM_005253835.4 | 1078 | Missense Mutation | CCG,GCG | P,A 229 | XP_005253892.1 | |
XM_005253836.1 | 1078 | UTR 3 | 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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301175.1 | 1078 | Intron | NP_001288104.1 | |||
NM_032663.4 | 1078 | Intron | NP_116052.2 | |||
XM_005253962.3 | 1078 | Intron | XP_005254019.1 | |||
XM_005253965.4 | 1078 | Intron | XP_005254022.1 | |||
XM_006719653.3 | 1078 | Intron | XP_006719716.1 | |||
XM_011538894.2 | 1078 | Intron | XP_011537196.1 | |||
XM_017020048.1 | 1078 | Intron | XP_016875537.1 | |||
XM_017020049.1 | 1078 | Intron | XP_016875538.1 | |||
XM_017020050.1 | 1078 | Intron | XP_016875539.1 | |||
XM_017020051.1 | 1078 | Intron | XP_016875540.1 | |||
XM_017020052.1 | 1078 | Intron | XP_016875541.1 | |||
XM_017020053.1 | 1078 | Intron | XP_016875542.1 | |||
XM_017020054.1 | 1078 | Intron | XP_016875543.1 |