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TTCTTGTTGCTTAAATACCCGACCT[G/T]GCTGCACCAGAGAAAGAAGCAGCGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616317 MIM: 613175 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GDPD1 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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GDPD1 - glycerophosphodiester phosphodiesterase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165993.1 | 229 | Missense Mutation | TGG,TTG | W,L 29 | NP_001159465.1 | |
NM_001165994.1 | 229 | Missense Mutation | TGG,TTG | W,L 29 | NP_001159466.1 | |
NM_182569.3 | 229 | Missense Mutation | TGG,TTG | W,L 29 | NP_872375.2 | |
XM_017024521.1 | 229 | Intron | XP_016880010.1 |
SMG8 - SMG8, nonsense mediated mRNA decay factor | ||||||
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There are no transcripts associated with this gene. |