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AACTTACGGGGATACAAAATCCTTT[G/T]GCATGAGGAAAGCTGAAATTCCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605943 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GDE1 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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GDE1 - glycerophosphodiester phosphodiesterase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324066.1 | 994 | Missense Mutation | CAA,CCA | Q,P 167 | NP_001310995.1 | |
NM_001324067.1 | 994 | Missense Mutation | CAA,CCA | Q,P 246 | NP_001310996.1 | |
NM_016641.3 | 994 | Missense Mutation | CAA,CCA | Q,P 277 | NP_057725.1 |
TMC5 - transmembrane channel like 5 | ||||||
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There are no transcripts associated with this gene. |