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CTGTACAAAAATCCCCAGAGCCACA[C/T]AGACGGGGGTGGTAGTGCGAACCAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610588 MIM: 602742 | ||||||||||||||||||||
Literature Links: |
DDN 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 |
DDN - dendrin | ||||||
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There are no transcripts associated with this gene. |
PRKAG1 - protein kinase AMP-activated non-catalytic subunit gamma 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206709.1 | 747 | Missense Mutation | TAT,TGT | Y,C 223 | NP_001193638.1 | |
NM_001206710.1 | 747 | Missense Mutation | TAT,TGT | Y,C 182 | NP_001193639.1 | |
NM_002733.4 | 747 | Missense Mutation | TAT,TGT | Y,C 214 | NP_002724.1 | |
XM_005269019.4 | 747 | Missense Mutation | TAT,TGT | Y,C 251 | XP_005269076.1 | |
XM_005269020.2 | 747 | Missense Mutation | TAT,TGT | Y,C 130 | XP_005269077.1 | |
XM_006719499.2 | 747 | Missense Mutation | TAT,TGT | Y,C 182 | XP_006719562.1 | |
XM_011538562.2 | 747 | Missense Mutation | TAT,TGT | Y,C 182 | XP_011536864.1 | |
XM_017019622.1 | 747 | Missense Mutation | TAT,TGT | Y,C 130 | XP_016875111.1 | |
XM_017019623.1 | 747 | Missense Mutation | TAT,TGT | Y,C 130 | XP_016875112.1 |