Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602113 MIM: 602742 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
KMT2D 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)
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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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KMT2D - lysine methyltransferase 2D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003482.3 | 20027 | UTR 3 | NP_003473.3 | |||
XM_005269162.4 | 20027 | UTR 3 | XP_005269219.1 | |||
XM_006719614.3 | 20027 | UTR 3 | XP_006719677.1 | |||
XM_006719616.3 | 20027 | UTR 3 | XP_006719679.1 | |||
XM_011538770.2 | 20027 | UTR 3 | XP_011537072.1 | |||
XM_011538771.2 | 20027 | UTR 3 | XP_011537073.1 | |||
XM_011538772.2 | 20027 | UTR 3 | XP_011537074.1 | |||
XM_011538773.2 | 20027 | UTR 3 | XP_011537075.1 | |||
XM_011538774.2 | 20027 | UTR 3 | XP_011537076.1 | |||
XM_011538776.2 | 20027 | UTR 3 | XP_011537078.1 |
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 | 20027 | Intron | NP_001193638.1 | |||
NM_001206710.1 | 20027 | Intron | NP_001193639.1 | |||
NM_002733.4 | 20027 | Intron | NP_002724.1 | |||
XM_005269019.4 | 20027 | Intron | XP_005269076.1 | |||
XM_005269020.2 | 20027 | Intron | XP_005269077.1 | |||
XM_006719499.2 | 20027 | Intron | XP_006719562.1 | |||
XM_011538562.2 | 20027 | Intron | XP_011536864.1 | |||
XM_017019622.1 | 20027 | Intron | XP_016875111.1 | |||
XM_017019623.1 | 20027 | Intron | XP_016875112.1 |
Set Membership: |
HapMap |