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CAAGTAGAAATGAGAGAAATCAGGA[A/G]GGGATATCGGGGGCGTCCACGGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 113530 MIM: 612832 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCAT2 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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BCAT2 - branched chain amino acid transaminase 2 | ||||||
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There are no transcripts associated with this gene. |
HSD17B14 - hydroxysteroid 17-beta dehydrogenase 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016246.2 | 1073 | Silent Mutation | CCC,CCT | P,P 269 | NP_057330.2 | |
XM_005258969.3 | 1073 | UTR 3 | XP_005259026.1 | |||
XM_005258970.3 | 1073 | UTR 3 | XP_005259027.1 |