Product Details

SNP ID
rs138180403
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:70584914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCAGGTTTTACAGTTTCTGGTA[C/T]AGGTTCTGCCTCTTTCTTTGTTTGA
Phenotype
MIM: 602984
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MED6 PubMed Links

Gene Details

Gene
MED6
Gene Name
mediator complex subunit 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284209.1 693 Missense Mutation ATA,GTA I221V NP_001271138.1
NM_001284210.1 693 Missense Mutation TAT,TGT Y175C NP_001271139.1
NM_001284211.1 693 Missense Mutation ATA,GTA I214V NP_001271140.1
NM_005466.3 693 Missense Mutation ATA,GTA I214V NP_005457.2

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