Product Details

SNP ID

rs76638061

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:100196184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACAATATAAATTGTAAAGATGAA[C/T]ATGTGCTGGCACAGCTAGGGTTTAC

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	1780	UTR 3			NP_001909.3
XM_005270545.3	1780	UTR 3			XP_005270602.1
XM_017000468.1	1780	UTR 3			XP_016855957.1
XM_017000469.1	1780	UTR 3			XP_016855958.1

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