Product Details
- SNP ID
-
rs140040785
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:197512079 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCACTGCTGCAGTAGGTCTCCATC[A/T]TGGCGATCTTTTCATCAAAGTACTT
- Phenotype
-
MIM: 603063
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
BDH1
PubMed Links
Gene Details
- Gene
- BDH1
- Gene Name
- 3-hydroxybutyrate dehydrogenase, type 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_004051.4 |
2542 |
Missense Mutation |
AAG,ATG |
K283M |
NP_004042.1 |
NM_203314.2 |
2542 |
Missense Mutation |
AAG,ATG |
K283M |
NP_976059.1 |
NM_203315.2 |
2542 |
Missense Mutation |
AAG,ATG |
K283M |
NP_976060.1 |
XM_005269352.3 |
2542 |
Missense Mutation |
AAG,ATG |
K283M |
XP_005269409.1 |
XM_005269355.4 |
2542 |
Missense Mutation |
AAG,ATG |
K146M |
XP_005269412.1 |
XM_011513067.2 |
2542 |
Missense Mutation |
AAG,ATG |
K287M |
XP_011511369.1 |
XM_017007007.1 |
2542 |
Missense Mutation |
AAG,ATG |
K283M |
XP_016862496.1 |
XM_017007008.1 |
2542 |
Missense Mutation |
AAG,ATG |
K270M |
XP_016862497.1 |
XM_017007009.1 |
2542 |
Missense Mutation |
AAG,ATG |
K264M |
XP_016862498.1 |
XM_017007010.1 |
2542 |
Missense Mutation |
AAG,ATG |
K264M |
XP_016862499.1 |
XM_017007011.1 |
2542 |
Missense Mutation |
AAG,ATG |
K270M |
XP_016862500.1 |
XM_017007012.1 |
2542 |
Missense Mutation |
AAG,ATG |
K270M |
XP_016862501.1 |
XM_017007013.1 |
2542 |
Intron |
|
|
XP_016862502.1 |
XM_017007014.1 |
2542 |
Missense Mutation |
AAG,ATG |
K146M |
XP_016862503.1 |
XM_017007015.1 |
2542 |
Missense Mutation |
AAG,ATG |
K146M |
XP_016862504.1 |
- Gene
- LOC100129516
- Gene Name
- uncharacterized LOC100129516
There are no transcripts associated with this gene.
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