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ATGACCATGGTGTGTTTCTCAATGT[C/G]TCGAGCAGCATACAGGCCCAGCCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606833 | ||||||||||||||||||||
Literature Links: |
KMT2C 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 |
KMT2C - lysine methyltransferase 2C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_170606.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4790 | NP_733751.2 | |
XM_005250025.4 | 14782 | Missense Mutation | CAC,GAC | H,D 4862 | XP_005250082.1 | |
XM_005250026.3 | 14782 | Missense Mutation | CAC,GAC | H,D 4861 | XP_005250083.1 | |
XM_005250027.4 | 14782 | Missense Mutation | CAC,GAC | H,D 4861 | XP_005250084.1 | |
XM_005250028.4 | 14782 | Missense Mutation | CAC,GAC | H,D 4858 | XP_005250085.1 | |
XM_005250031.4 | 14782 | Missense Mutation | CAC,GAC | H,D 4807 | XP_005250088.1 | |
XM_006716077.3 | 14782 | Missense Mutation | CAC,GAC | H,D 4861 | XP_006716140.1 | |
XM_006716078.3 | 14782 | Missense Mutation | CAC,GAC | H,D 4838 | XP_006716141.1 | |
XM_006716079.3 | 14782 | Missense Mutation | CAC,GAC | H,D 4806 | XP_006716142.1 | |
XM_011516450.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4846 | XP_011514752.1 | |
XM_011516451.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4822 | XP_011514753.1 | |
XM_011516452.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4811 | XP_011514754.1 | |
XM_011516453.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4783 | XP_011514755.1 | |
XM_011516454.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4557 | XP_011514756.1 | |
XM_011516456.2 | 14782 | Missense Mutation | CAC,GAC | H,D 4842 | XP_011514758.1 | |
XM_017012480.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4862 | XP_016867969.1 | |
XM_017012481.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4861 | XP_016867970.1 | |
XM_017012482.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4857 | XP_016867971.1 | |
XM_017012483.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4857 | XP_016867972.1 | |
XM_017012484.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4851 | XP_016867973.1 | |
XM_017012485.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4845 | XP_016867974.1 | |
XM_017012486.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4833 | XP_016867975.1 | |
XM_017012487.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4813 | XP_016867976.1 | |
XM_017012488.1 | 14782 | Missense Mutation | CAC,GAC | H,D 4801 | XP_016867977.1 | |
XM_017012489.1 | 14782 | Missense Mutation | CAC,GAC | H,D 3752 | XP_016867978.1 | |
XM_017012490.1 | 14782 | Missense Mutation | CAC,GAC | H,D 3620 | XP_016867979.1 |
LOC731075 - uncharacterized LOC731075 | ||||||
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There are no transcripts associated with this gene. |