Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCTCCTAAAGCAGCCACCGGTGCC[G/T]CCTCCATCTCCCTGTCCTCAGACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300546 MIM: 300945 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FGD1 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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FGD1 - FYVE, RhoGEF and PH domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004463.2 | 3550 | Missense Mutation | GAG,GCG | E,A 939 | NP_004454.2 |
TSR2 - TSR2, ribosome maturation factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_058163.1 | 3550 | Intron | NP_477511.1 |