Product Details

SNP ID

rs144470429

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:27526307 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACACATCATCCTGTAGATCTGATG[C/G]GCCAGACTGCCAAGAAGGATTGGGC

Phenotype

MIM: 608475

Polymorphism

C/G, Transversion 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	1161	Silent Mutation	GCC,GCG	A306A	NP_689953.1
XM_017011719.1	1161	Silent Mutation	GCC,GCG	A205A	XP_016867208.1

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