Product Details

SNP ID
rs200704360
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31270040 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTAGGACAACCAGGACAGCCAGG[A/C]CAGCAACGATGCCCATGATGGGGAT
Phenotype
MIM: 142840
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
HLA-C PubMed Links

Gene Details

Gene
HLA-C
Gene Name
major histocompatibility complex, class I, C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243042.1 1006 Missense Mutation GGC,GTC G314V NP_001229971.1
NM_002117.5 1006 Missense Mutation GGC,GTC G314V NP_002108.4

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