Search Thermo Fisher Scientific
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GTGGGAGAGGATGGACGAGGGATGC[C/G]GAGAGACCATATATGTCATTGGGCA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602245 MIM: 615323 | |||||||||||||||||||||||
Literature Links: |
GTPBP1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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)
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EUR - Not Available | |||||
AMR - Not Available |
GTPBP1 - GTP binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004286.4 | 1649 | Missense Mutation | CGA,GGA | R,G 91 | NP_004277.2 | |
XM_011530537.2 | 1649 | Missense Mutation | CGA,GGA | R,G 91 | XP_011528839.1 | |
XM_017029099.1 | 1649 | Missense Mutation | CGA,GGA | R,G 91 | XP_016884588.1 | |
XM_017029100.1 | 1649 | Missense Mutation | CGA,GGA | R,G 91 | XP_016884589.1 | |
XM_017029101.1 | 1649 | Silent Mutation | GCC,GCG | A,A 16 | XP_016884590.1 | |
XM_017029102.1 | 1649 | Intron | XP_016884591.1 | |||
XM_017029103.1 | 1649 | Intron | XP_016884592.1 |
JOSD1 - Josephin domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |