Product Details

SNP ID: rs78481966
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:26245850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACATTCCCCAAATTATTATCATTT[A/G]CATTTTCTAGATGAAGTTTGGGAAG
Phenotype: MIM: 600890 MIM: 143450
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: HADHA PubMed Links

Gene Details

Gene: HADHA
Gene Name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

There are no transcripts associated with this gene.

Gene: HADHB
Gene Name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000183.2		Intron			NP_000174.1
NM_001281512.1		Intron			NP_001268441.1
NM_001281513.1		Intron			NP_001268442.1
XM_011532803.1		Intron			XP_011531105.1
XM_017003939.1		Intron			XP_016859428.1

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