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Search Thermo Fisher Scientific
GGGTGGCCCGCTTACCTGAACCTTC[C/T]GATCCGCCGTAGGTGTGAGAACATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601639 | ||||||||||||||||||||
Literature Links: |
PRKACA 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 |
PRKACA - protein kinase cAMP-activated catalytic subunit alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304349.1 | 1043 | Missense Mutation | AGA,GGA | R,G 213 | NP_001291278.1 | |
NM_002730.3 | 1043 | Missense Mutation | AGA,GGA | R,G 137 | NP_002721.1 | |
NM_207518.2 | 1043 | Intron | NP_997401.1 | |||
XM_017026948.1 | 1043 | Intron | XP_016882437.1 |