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CCGCATGAAATGGAGATCCGATTGC[C/T]TGACTTAGCTTTGAAGCGAATCTTC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 609075 | |||||||||||||||||||||||
Literature Links: |
FBXW12 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
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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 |
FBXW12 - F-box and WD repeat domain containing 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159927.1 | 216 | Missense Mutation | CCT,CTT | P,L 6 | NP_001153399.1 | |
NM_001159929.1 | 216 | Intron | NP_001153401.1 | |||
NM_207102.2 | 216 | Missense Mutation | CCT,CTT | P,L 6 | NP_996985.2 | |
XM_017006224.1 | 216 | Missense Mutation | CCT,CTT | P,L 6 | XP_016861713.1 |