Product Details

SNP ID
rs3138100
Assay Type
Functionally Tested
NCBI dbSNP Submissions
62
Location
Chr.1:158291281 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCAGGCACAATAATTTTCCTGCATA[A/C]CTGGTCCAAGGGCAACTTCAGCAAT
Phenotype
MIM: 188360 MIM: 188340
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
CD1B PubMed Links

Gene Details

Gene
CD1B
Gene Name
CD1b molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001764.2 501 Intron NP_001755.1
XM_011510119.2 501 Intron XP_011508421.1
XM_017002784.1 501 Intron XP_016858273.1
XM_017002785.1 501 Intron XP_016858274.1
XM_017002786.1 501 Intron XP_016858275.1
Gene
CD1C
Gene Name
CD1c molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001765.2 501 Missense Mutation AAC,ACC N70T NP_001756.2
XM_005245579.4 501 Missense Mutation AAC,ACC N70T XP_005245636.1

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