Product Details

SNP ID

rs139866849

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107926269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCGGAGTTTTGGGCAGCTTTCC[A/G]CTTAAGTTCTTCCACATTCCTCTCT

Phenotype

MIM: 238331 MIM: 150240

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DLD PubMed Links

Gene Details

Gene

DLD

Gene Name

dihydrolipoamide dehydrogenase

There are no transcripts associated with this gene.

Gene

LAMB1

Gene Name

laminin subunit beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002291.2	5313	Missense Mutation	CGG,TGG	R1660W	NP_002282.2
XM_017012201.1	5313	Missense Mutation	CGG,TGG	R1684W	XP_016867690.1
XM_017012202.1	5313	Intron			XP_016867691.1

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