Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607434 MIM: 603968 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTPBP2 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)
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EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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GTPBP2 - GTP binding protein 2 | ||||||
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There are no transcripts associated with this gene. |
POLH - DNA polymerase eta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291969.1 | 1590 | Missense Mutation | ACG,ATG | T,M 354 | NP_001278898.1 | |
NM_001291970.1 | 1590 | UTR 3 | NP_001278899.1 | |||
NM_006502.2 | 1590 | Missense Mutation | ACG,ATG | T,M 478 | NP_006493.1 | |
XM_005249186.3 | 1590 | Missense Mutation | ACG,ATG | T,M 416 | XP_005249243.1 | |
XM_011514698.2 | 1590 | Missense Mutation | ACG,ATG | T,M 354 | XP_011513000.1 |
Set Membership: |
HapMap |