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AGTGCTTGTCAAAGCTCAGCTGCAC[C/T]GCGGCCTCCATGGCTTGGATCTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300962 | ||||||||||||||||||||
Literature Links: |
GEMIN8 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 |
GEMIN8 - gem nuclear organelle associated protein 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042479.1 | 997 | Silent Mutation | GCA,GCG | A,A 218 | NP_001035944.1 | |
NM_001042480.1 | 997 | Silent Mutation | GCA,GCG | A,A 218 | NP_001035945.1 | |
NM_017856.2 | 997 | Silent Mutation | GCA,GCG | A,A 218 | NP_060326.1 | |
XM_005274555.2 | 997 | Silent Mutation | GCA,GCG | A,A 319 | XP_005274612.1 | |
XM_017029617.1 | 997 | Silent Mutation | GCA,GCG | A,A 218 | XP_016885106.1 | |
XM_017029618.1 | 997 | Silent Mutation | GCA,GCG | A,A 218 | XP_016885107.1 |