Product Details

SNP ID
rs5981075
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:71122583 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGTTGAAGTTCGCTGGTCTTTC[C/G]ATAAATGCCAGGAAGCTACTGCAGG
Phenotype
MIM: 300188
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
MED12 PubMed Links

Gene Details

Gene
MED12
Gene Name
mediator complex subunit 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005120.2 1523 Missense Mutation CAT,GAT H442D NP_005111.2

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