Product Details

SNP ID

rs189054439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:27526321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGATCTGATGGGCCAGACTGCCAA[A/G]AAGGATTGGGCTCTTTGTGCTGGTA

Phenotype

MIM: 608475

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HIBADH PubMed Links

Gene Details

Gene

HIBADH

Gene Name

3-hydroxyisobutyrate dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152740.3	1147	Missense Mutation	CTT,TTT	L302F	NP_689953.1
XM_017011719.1	1147	Missense Mutation	CTT,TTT	L201F	XP_016867208.1

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