Product Details

SNP ID

rs139104239

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107924291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAGTTTTTGCTTCATTTTGTAG[C/G]ATTTCGGCTTTCCTTCTGGCATCAG

Phenotype

MIM: 238331 MIM: 150240

Polymorphism

C/G, Transversion 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	5498	Missense Mutation	ATC,ATG	I1721M	NP_002282.2
XM_017012201.1	5498	Missense Mutation	ATC,ATG	I1745M	XP_016867690.1
XM_017012202.1	5498	Intron			XP_016867691.1

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