Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGCACGCGGCCCTCCTCCAGGGCCC[A/G]CAGCAACTGCTTCATGGTGATCGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 113530 | ||||||||||||||||||||
Literature Links: |
BCAT2 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 |
BCAT2 - branched chain amino acid transaminase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164773.1 | 1510 | Missense Mutation | CGG,TGG | R,W 233 | NP_001158245.1 | |
NM_001190.3 | 1510 | Missense Mutation | CGG,TGG | R,W 325 | NP_001181.2 | |
NM_001284325.1 | 1510 | Missense Mutation | CGG,TGG | R,W 285 | NP_001271254.1 |