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TTTTCCAAACCAAAAATCTGAAGCA[C/G]CAGAACCTCCAAAAACTCCACCCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607240 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KMT5A 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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KMT5A - lysine methyltransferase 5A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324504.1 | 702 | Intron | NP_001311433.1 | |||
NM_001324505.1 | 702 | Intron | NP_001311434.1 | |||
NM_001324506.1 | 702 | Intron | NP_001311435.1 | |||
NM_020382.4 | 702 | Intron | NP_065115.3 | |||
XM_006719394.3 | 702 | Intron | XP_006719457.1 | |||
XM_011538333.2 | 702 | Missense Mutation | CCA,GCA | P,A 78 | XP_011536635.1 |