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CCTCTCAGTTGGGGCTTCTACCGAC[C/T]GGCGGGTGTTGCAGTACAGGTCGTG
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 | |||
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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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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 | 894 | Missense Mutation | CAG,CGG | Q,R 184 | NP_001035944.1 | |
NM_001042480.1 | 894 | Missense Mutation | CAG,CGG | Q,R 184 | NP_001035945.1 | |
NM_017856.2 | 894 | Missense Mutation | CAG,CGG | Q,R 184 | NP_060326.1 | |
XM_005274555.2 | 894 | Missense Mutation | CAG,CGG | Q,R 285 | XP_005274612.1 | |
XM_017029617.1 | 894 | Missense Mutation | CAG,CGG | Q,R 184 | XP_016885106.1 | |
XM_017029618.1 | 894 | Missense Mutation | CAG,CGG | Q,R 184 | XP_016885107.1 |