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GGTTGATCATGAGTGGCAGCTCCAT[A/C]AGGGGGTGGCGCCCATAGCGGAATA
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) - 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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KMT2D - lysine methyltransferase 2D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003482.3 | 17266 | Silent Mutation | CTG,CTT | L,L 5326 | NP_003473.3 | |
XM_005269162.4 | 17266 | Silent Mutation | CTG,CTT | L,L 5326 | XP_005269219.1 | |
XM_006719614.3 | 17266 | Silent Mutation | CTG,CTT | L,L 5329 | XP_006719677.1 | |
XM_006719616.3 | 17266 | Silent Mutation | CTG,CTT | L,L 5325 | XP_006719679.1 | |
XM_011538770.2 | 17266 | Silent Mutation | CTG,CTT | L,L 5329 | XP_011537072.1 | |
XM_011538771.2 | 17266 | Silent Mutation | CTG,CTT | L,L 5328 | XP_011537073.1 | |
XM_011538772.2 | 17266 | Silent Mutation | CTG,CTT | L,L 5326 | XP_011537074.1 | |
XM_011538773.2 | 17266 | Silent Mutation | CTG,CTT | L,L 5325 | XP_011537075.1 | |
XM_011538774.2 | 17266 | Silent Mutation | CTG,CTT | L,L 5322 | XP_011537076.1 | |
XM_011538776.2 | 17266 | Silent Mutation | CTG,CTT | L,L 5298 | XP_011537078.1 |
PRKAG1 - protein kinase AMP-activated non-catalytic subunit gamma 1 | ||||||
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There are no transcripts associated with this gene. |