Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGTAGGGGGTGGTGGCGGTCAGGG[C/T]GTGTGTGACAGCATCGATGACAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603063 | ||||||||||||||||||||
Literature Links: |
BDH1 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 |
BDH1 - 3-hydroxybutyrate dehydrogenase, type 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004051.4 | 2607 | Missense Mutation | ACC,GCC | T,A 305 | NP_004042.1 | |
NM_203314.2 | 2607 | Missense Mutation | ACC,GCC | T,A 305 | NP_976059.1 | |
NM_203315.2 | 2607 | Missense Mutation | ACC,GCC | T,A 305 | NP_976060.1 | |
XM_005269352.3 | 2607 | Missense Mutation | ACC,GCC | T,A 305 | XP_005269409.1 | |
XM_005269355.4 | 2607 | Missense Mutation | ACC,GCC | T,A 168 | XP_005269412.1 | |
XM_011513067.2 | 2607 | Missense Mutation | ACC,GCC | T,A 309 | XP_011511369.1 | |
XM_017007007.1 | 2607 | Missense Mutation | ACC,GCC | T,A 305 | XP_016862496.1 | |
XM_017007008.1 | 2607 | Missense Mutation | ACC,GCC | T,A 292 | XP_016862497.1 | |
XM_017007009.1 | 2607 | Missense Mutation | ACC,GCC | T,A 286 | XP_016862498.1 | |
XM_017007010.1 | 2607 | Missense Mutation | ACC,GCC | T,A 286 | XP_016862499.1 | |
XM_017007011.1 | 2607 | Missense Mutation | ACC,GCC | T,A 292 | XP_016862500.1 | |
XM_017007012.1 | 2607 | Missense Mutation | ACC,GCC | T,A 292 | XP_016862501.1 | |
XM_017007013.1 | 2607 | Intron | XP_016862502.1 | |||
XM_017007014.1 | 2607 | Missense Mutation | ACC,GCC | T,A 168 | XP_016862503.1 | |
XM_017007015.1 | 2607 | Missense Mutation | ACC,GCC | T,A 168 | XP_016862504.1 |
LOC100129516 - uncharacterized LOC100129516 | ||||||
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There are no transcripts associated with this gene. |