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Search Thermo Fisher Scientific
AGGATCTTGTAAATTCCGTTCCTTG[C/G]ATTGAGAGGGTGTAATTTGTTTCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 117143 | ||||||||||||||||||||
Literature Links: |
BDH2 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 |
BDH2 - 3-hydroxybutyrate dehydrogenase, type 2 | ||||||
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There are no transcripts associated with this gene. |
CENPE - centromere protein E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286734.1 | 7967 | Missense Mutation | TCC,TGC | S,C 2505 | NP_001273663.1 | |
NM_001813.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2626 | NP_001804.2 | |
XM_011531544.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2601 | XP_011529846.1 | |
XM_011531545.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2573 | XP_011529847.1 | |
XM_011531546.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2558 | XP_011529848.1 | |
XM_011531547.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2530 | XP_011529849.1 | |
XM_011531548.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2529 | XP_011529850.1 | |
XM_011531549.2 | 7967 | Missense Mutation | TCC,TGC | S,C 2478 | XP_011529851.1 | |
XM_017007659.1 | 7967 | Missense Mutation | TCC,TGC | S,C 2476 | XP_016863148.1 |