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AAGAGGAGGAATCATCTGTACTTTC[C/T]TCCTCATACTGACTATAGTCATCCA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
KMT5B - lysine methyltransferase 5B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300907.1 | 2821 | Silent Mutation | GAA,GAG | E,E 651 | NP_001287836.1 | |
NM_001300908.1 | 2821 | Silent Mutation | GAA,GAG | E,E 583 | NP_001287837.1 | |
NM_001300909.1 | 2821 | Intron | NP_001287838.1 | |||
NM_016028.4 | 2821 | Intron | NP_057112.3 | |||
NM_017635.4 | 2821 | Silent Mutation | GAA,GAG | E,E 823 | NP_060105.3 | |
XM_005274035.3 | 2821 | Silent Mutation | GAA,GAG | E,E 823 | XP_005274092.2 | |
XM_005274036.3 | 2821 | Silent Mutation | GAA,GAG | E,E 800 | XP_005274093.2 | |
XM_006718581.1 | 2821 | Silent Mutation | GAA,GAG | E,E 800 | XP_006718644.1 | |
XM_011545091.1 | 2821 | Silent Mutation | GAA,GAG | E,E 823 | XP_011543393.1 | |
XM_011545092.2 | 2821 | Silent Mutation | GAA,GAG | E,E 752 | XP_011543394.1 | |
XM_011545093.2 | 2821 | Silent Mutation | GAA,GAG | E,E 409 | XP_011543395.1 | |
XM_011545094.2 | 2821 | Intron | XP_011543396.1 | |||
XM_017017876.1 | 2821 | Silent Mutation | GAA,GAG | E,E 651 | XP_016873365.1 | |
XM_017017877.1 | 2821 | Silent Mutation | GAA,GAG | E,E 651 | XP_016873366.1 | |
XM_017017878.1 | 2821 | Silent Mutation | GAA,GAG | E,E 651 | XP_016873367.1 | |
XM_017017879.1 | 2821 | Silent Mutation | GAA,GAG | E,E 651 | XP_016873368.1 | |
XM_017017880.1 | 2821 | Intron | XP_016873369.1 |