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GACCCATCAAATCTGGTACCGCGTC[A/G]TCTTTTCCAGGAGAATCGTGCACTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610881 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KMT5B 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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KMT5B - lysine methyltransferase 5B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300907.1 | 2269 | Silent Mutation | GAC,GAT | D,D 467 | NP_001287836.1 | |
NM_001300908.1 | 2269 | Silent Mutation | GAC,GAT | D,D 399 | NP_001287837.1 | |
NM_001300909.1 | 2269 | Intron | NP_001287838.1 | |||
NM_016028.4 | 2269 | Intron | NP_057112.3 | |||
NM_017635.4 | 2269 | Silent Mutation | GAC,GAT | D,D 639 | NP_060105.3 | |
XM_005274035.3 | 2269 | Silent Mutation | GAC,GAT | D,D 639 | XP_005274092.2 | |
XM_005274036.3 | 2269 | Silent Mutation | GAC,GAT | D,D 616 | XP_005274093.2 | |
XM_006718581.1 | 2269 | Silent Mutation | GAC,GAT | D,D 616 | XP_006718644.1 | |
XM_011545091.1 | 2269 | Silent Mutation | GAC,GAT | D,D 639 | XP_011543393.1 | |
XM_011545092.2 | 2269 | Silent Mutation | GAC,GAT | D,D 568 | XP_011543394.1 | |
XM_011545093.2 | 2269 | Silent Mutation | GAC,GAT | D,D 225 | XP_011543395.1 | |
XM_011545094.2 | 2269 | Intron | XP_011543396.1 | |||
XM_017017876.1 | 2269 | Silent Mutation | GAC,GAT | D,D 467 | XP_016873365.1 | |
XM_017017877.1 | 2269 | Silent Mutation | GAC,GAT | D,D 467 | XP_016873366.1 | |
XM_017017878.1 | 2269 | Silent Mutation | GAC,GAT | D,D 467 | XP_016873367.1 | |
XM_017017879.1 | 2269 | Silent Mutation | GAC,GAT | D,D 467 | XP_016873368.1 | |
XM_017017880.1 | 2269 | Intron | XP_016873369.1 |