Product Details

SNP ID

rs79887429

Assay Type

Functionally tested

NCBI dbSNP Submissions

24

Location

Chr.1:100190417 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATGACATGGCTCTACCTAACTG[C/T]AGGCTGAAAGAAAAGGAACAAGGTT

Phenotype

MIM: 248610

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DBT PubMed Links

Gene Details

Gene

DBT

Gene Name

dihydrolipoamide branched chain transacylase E2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001918.3	7320	UTR 3			NP_001909.3
XM_005270545.3	7320	Intron			XP_005270602.1
XM_017000468.1	7320	Intron			XP_016855957.1
XM_017000469.1	7320	Intron			XP_016855958.1

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