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ACTTCCAGGTCTTGGAGTTAGGTCA[A/G]CAGGAGAAGAGTCAAGTGAGGTCAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602739 | ||||||||||||||||||||
Literature Links: |
PRKAA1 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 |
PRKAA1 - protein kinase AMP-activated catalytic subunit alpha 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006251.5 | 2560 | Missense Mutation | GCT,GTT | A,V 533 | NP_006242.5 | |
NM_206907.3 | 2560 | Missense Mutation | GCT,GTT | A,V 548 | NP_996790.3 | |
XM_006714482.1 | 2560 | Missense Mutation | GCT,GTT | A,V 275 | XP_006714545.1 | |
XM_017009624.1 | 2560 | Missense Mutation | GCT,GTT | A,V 522 | XP_016865113.1 | |
XM_017009625.1 | 2560 | Missense Mutation | GCT,GTT | A,V 507 | XP_016865114.1 |
TTC33 - tetratricopeptide repeat domain 33 | ||||||
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There are no transcripts associated with this gene. |