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TGCTGCCGGTGTTCATCACCTTCTG[C/G]TGTAGCCTCCAGCGGTCGCGCCGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601440 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C17orf67 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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C17orf67 - chromosome 17 open reading frame 67 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001085430.2 | 297 | Intron | NP_001078899.2 | |||
XM_011524735.2 | 297 | Intron | XP_011523037.1 |
DGKE - diacylglycerol kinase epsilon | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003647.2 | 297 | Missense Mutation | TGC,TGG | C,W 39 | NP_003638.1 | |
XM_011525394.2 | 297 | Missense Mutation | TGC,TGG | C,W 57 | XP_011523696.1 | |
XM_011525395.2 | 297 | Missense Mutation | TGC,TGG | C,W 57 | XP_011523697.1 | |
XM_011525396.2 | 297 | Missense Mutation | TGC,TGG | C,W 57 | XP_011523698.1 | |
XM_017025243.1 | 297 | Missense Mutation | TGC,TGG | C,W 39 | XP_016880732.1 | |
XM_017025244.1 | 297 | Missense Mutation | TGC,TGG | C,W 57 | XP_016880733.1 | |
XM_017025245.1 | 297 | Missense Mutation | TGC,TGG | C,W 57 | XP_016880734.1 |