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TATCATAGGCTGCAGCCTTGTGCCT[A/G]GAGAGATTTGCTGGGGAGCAAGGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123695 MIM: 612084 | ||||||||||||||||||||
Literature Links: |
PCYT1A 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 |
PCYT1A - phosphate cytidylyltransferase 1, choline, alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001312673.1 | 1204 | Silent Mutation | TCC,TCT | S,S 352 | NP_001299602.1 | |
NM_005017.3 | 1204 | Silent Mutation | TCC,TCT | S,S 352 | NP_005008.2 |
SLC51A - solute carrier family 51 alpha subunit | ||||||
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There are no transcripts associated with this gene. |