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CTGTAGAGCATTGTGCCTATTTCCC[C/T]GAGTCTTTGCTGCCGAAGCTGTGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615618 MIM: 615534 | ||||||||||||||||||||
Literature Links: |
POGLUT1 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 |
POGLUT1 - protein O-glucosyltransferase 1 | ||||||
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There are no transcripts associated with this gene. |
TIMMDC1 - translocase of inner mitochondrial membrane domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016589.3 | 270 | Missense Mutation | CGA,TGA | R,* 21 | NP_057673.2 | |
XM_017006556.1 | 270 | Missense Mutation | CGA,TGA | R,* 21 | XP_016862045.1 |