Product Details

SNP ID

rs139780649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107924065 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTATCTTCTAAGTATCTTTGATT[A/G]TCTTCATATTTTCTTTCTAAATCTG

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	5582	Silent Mutation	GAC,GAT	D1749D	NP_002282.2
XM_017012201.1	5582	Silent Mutation	GAC,GAT	D1773D	XP_016867690.1
XM_017012202.1	5582	Intron			XP_016867691.1

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