Product Details

SNP ID
hCV2376211
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:136650365 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCTTATCCTTACTGAACTGTGAG[G/T]AGATTAAAAGCCAGTTTGAAGGCTT
Phenotype
MIM: 300386
Polymorphism
G/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_000074.2 328 Nonsense Mutation GAG,TAG E86* 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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