Product Details

SNP ID
rs188852908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:40659526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAGCTGAAGCGTTTGGTTGGTTT[G/T]GGGACTAAGAGCTACTCTGCATTTC
Phenotype
MIM: 300182
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MED14 PubMed Links

Gene Details

Gene
MED14
Gene Name
mediator complex subunit 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004229.3 3816 Missense Mutation AAA,CAA K1256Q NP_004220.2
XM_005272701.2 3816 Missense Mutation AAA,CAA K1140Q XP_005272758.1
XM_011544000.2 3816 Missense Mutation AAA,CAA K1140Q XP_011542302.1
XM_017029962.1 3816 Missense Mutation AAA,CAA K1140Q XP_016885451.1

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