Product Details

SNP ID

hCV27864066

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:136648390 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCACTTTTTGCTGTGTATCTTCAT[A/T]GAAGGTTGGACAAGGTAAGATGAAC

Phenotype

MIM: 300386

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CD40LG PubMed Links

Gene Details

Gene

CD40LG

Gene Name

CD40 ligand

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000074.2	214	Nonsense Mutation	AGA,TGA	R48*	NP_000065.1

Gene

LINC00892

Gene Name

long intergenic non-protein coding RNA 892

There are no transcripts associated with this gene.

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