Product Details

SNP ID
rs147145468
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:40659464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAATTTCTCCAAAACTTGAAGTTC[A/T]TCAGGTTTCCACTGTCCTGCATTTT
Phenotype
MIM: 300182
Polymorphism
A/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 3878 Missense Mutation GAA,GAT E1276D NP_004220.2
XM_005272701.2 3878 Missense Mutation GAA,GAT E1160D XP_005272758.1
XM_011544000.2 3878 Missense Mutation GAA,GAT E1160D XP_011542302.1
XM_017029962.1 3878 Missense Mutation GAA,GAT E1160D XP_016885451.1

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