Product Details

SNP ID

rs12085550

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:100187999 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTATTAGAGAAATTAGTGCACTA[A/G]AGGACAGTGGTGGTTTTTAAAAATG

Phenotype

MIM: 248610

Polymorphism

A/G, 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	9738	UTR 3			NP_001909.3
XM_005270545.3	9738	Intron			XP_005270602.1
XM_017000468.1	9738	Intron			XP_016855957.1
XM_017000469.1	9738	Intron			XP_016855958.1

Gene

LRRC39

Gene Name

leucine rich repeat containing 39

There are no transcripts associated with this gene.

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