Product Details

SNP ID
rs193922135
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:136648279 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAACATACAACCAAACTTCTCCC[C/T]GATCTGCGGCCACTGGACTGCCCAT
Phenotype
MIM: 300386
Polymorphism
C/T, Transition 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_000074.2 103 Nonsense Mutation CGA,TGA R11* 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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