Product Details

SNP ID

rs149273596

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:27526253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTCGTAGGAACTGGAACACGGA[C/T]GAGAAGTCTTTCTTTGAGTAGCCCT

Phenotype

MIM: 608475

Polymorphism

C/T, 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	1215	Silent Mutation	TCA,TCG	S324S	NP_689953.1
XM_017011719.1	1215	Silent Mutation	TCA,TCG	S223S	XP_016867208.1

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