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TTCTCTTTGGACAGCGTCCATACTG[A/G]TGGGTTTTGGATACTGACTACTACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613742 | ||||||||||||||||||||
Literature Links: |
G6PC 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 |
G6PC - glucose-6-phosphatase catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000151.3 | 338 | Nonsense Mutation | TGA,TGG | *,W 86 | NP_000142.2 | |
NM_001270397.1 | 338 | Nonsense Mutation | TGA,TGG | *,W 86 | NP_001257326.1 |
LINC00671 - long intergenic non-protein coding RNA 671 | ||||||
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There are no transcripts associated with this gene. |