Product Details

SNP ID
rs147976430
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:158181538 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGACGCGCACCGACGGCTTGGCG[C/T]GGCTGGGGGAGCTGCAGACGCACAG
Phenotype
MIM: 188410
Polymorphism
C/T, Transition 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_001319145.1 323 Missense Mutation CGG,TGG R49W NP_001306074.1
NM_001766.3 323 Missense Mutation CGG,TGG R49W NP_001757.1
XM_005245583.1 323 UTR 5 XP_005245640.1
XM_006711621.1 323 UTR 5 XP_006711684.1
XM_011510125.1 323 Missense Mutation CGG,TGG R49W XP_011508427.1
XM_011510127.1 323 UTR 5 XP_011508429.1

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