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GTACACGACCACACACATCTTCTGG[C/T]TCACCAGGGTTAGCAGCTCTGTAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600749 MIM: 604235 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEBPE 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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CEBPE - CCAAT/enhancer binding protein epsilon | ||||||
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There are no transcripts associated with this gene. |
SLC7A8 - solute carrier family 7 member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267036.1 | 990 | Missense Mutation | AAC,AGC | N,S 382 | NP_001253965.1 | |
NM_001267037.1 | 990 | Missense Mutation | AAC,AGC | N,S 263 | NP_001253966.1 | |
NM_012244.3 | 990 | Missense Mutation | AAC,AGC | N,S 487 | NP_036376.2 | |
NM_182728.2 | 990 | Missense Mutation | AAC,AGC | N,S 284 | NP_877392.1 |