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TGACCCCTTCCCCCAGCTCAGGGCT[G/T]CTTCTCTCCACCTGTGAGCACCAGG
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 1094 | Missense Mutation | AAG,CAG | K,Q 339 | NP_001193638.1 | |
NM_001206710.1 | 1094 | Missense Mutation | AAG,CAG | K,Q 298 | NP_001193639.1 | |
NM_002733.4 | 1094 | Missense Mutation | AAG,CAG | K,Q 330 | NP_002724.1 | |
XM_005269019.4 | 1094 | Missense Mutation | AAG,CAG | K,Q 367 | XP_005269076.1 | |
XM_005269020.2 | 1094 | Missense Mutation | AAG,CAG | K,Q 246 | XP_005269077.1 | |
XM_006719499.2 | 1094 | Missense Mutation | AAG,CAG | K,Q 298 | XP_006719562.1 | |
XM_011538562.2 | 1094 | Missense Mutation | AAG,CAG | K,Q 298 | XP_011536864.1 | |
XM_017019622.1 | 1094 | Missense Mutation | AAG,CAG | K,Q 246 | XP_016875111.1 | |
XM_017019623.1 | 1094 | Missense Mutation | AAG,CAG | K,Q 246 | XP_016875112.1 |