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GCCGTGGGCAGAGCAGCTCAGGGCT[C/T]GGCACCTAGAGGCTCTCCGGAGGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610714 MIM: 600960 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PKN3 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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PKN3 - protein kinase N3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317926.1 | 796 | Missense Mutation | CGG,TGG | R,W 105 | NP_001304855.1 | |
NM_013355.4 | 796 | Missense Mutation | CGG,TGG | R,W 105 | NP_037487.2 | |
XM_005251946.3 | 796 | Missense Mutation | CGG,TGG | R,W 102 | XP_005252003.1 | |
XM_006717080.2 | 796 | Missense Mutation | CGG,TGG | R,W 112 | XP_006717143.1 | |
XM_017014649.1 | 796 | Missense Mutation | CGG,TGG | R,W 112 | XP_016870138.1 | |
XM_017014650.1 | 796 | UTR 5 | XP_016870139.1 |
SET - SET nuclear proto-oncogene | ||||||
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There are no transcripts associated with this gene. |