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GTTTGTTCAGCTTTTCCAGGGCTTC[A/G]TAGAAGTTTTCATAAGGGATGTTGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 162150 | ||||||||||||||||||||
Literature Links: |
LOC101929710 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 |
LOC101929710 - uncharacterized LOC101929710 | ||||||
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There are no transcripts associated with this gene. |
PCSK1 - proprotein convertase subtilisin/kexin type 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000439.4 | 2342 | Silent Mutation | TAC,TAT | Y,Y 701 | NP_000430.3 | |
NM_001177875.1 | 2342 | Silent Mutation | TAC,TAT | Y,Y 654 | NP_001171346.1 |