Product Details

SNP ID
rs200638686
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:158181692 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAGCAGCTTCACCAGGGACGTGA[A/T]GGAATTCGCCAAAATGCTACGCTTA
Phenotype
MIM: 188410
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CD1D PubMed Links

Gene Details

Gene
CD1D
Gene Name
CD1d molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319145.1 477 Missense Mutation AAG,ATG K100M NP_001306074.1
NM_001766.3 477 Missense Mutation AAG,ATG K100M NP_001757.1
XM_005245583.1 477 UTR 5 XP_005245640.1
XM_006711621.1 477 UTR 5 XP_006711684.1
XM_011510125.1 477 Missense Mutation AAG,ATG K100M XP_011508427.1
XM_011510127.1 477 UTR 5 XP_011508429.1

View Full Product Details