Product Details

SNP ID
rs201485042
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:10450576 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGAGCTTCTCTGGAGCTGATGGT[A/C]AATCTGCAGGGAGAGAAATGGGAAC
Phenotype
MIM: 161555
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KLRC1 PubMed Links

Gene Details

Gene
KLRC1
Gene Name
killer cell lectin like receptor C1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304448.1 648 Nonsense Mutation TGA,TTA *64L NP_001291377.1
NM_002259.4 648 Nonsense Mutation TGA,TTA *64L NP_002250.1
NM_007328.3 648 Nonsense Mutation TGA,TTA *64L NP_015567.1
NM_213657.2 648 Nonsense Mutation TGA,TTA *64L NP_998822.1
NM_213658.2 648 Nonsense Mutation TGA,TTA *64L NP_998823.1

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