Product Details

SNP ID

rs143346680

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:107989970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGGCAGTTCATGCGTTCCGTGT[C/T]CTCCTCGTCCACCGCCTCGGCCTCG

Phenotype

MIM: 601609

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HADH PubMed Links

Gene Details

Gene

HADH

Gene Name

hydroxyacyl-CoA dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184705.2	257	Missense Mutation	TCC,TTC	S13F	NP_001171634.2
NM_005327.4	257	Missense Mutation	TCC,TTC	S13F	NP_005318.3
XM_005262972.2	257	Intron			XP_005263029.1

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