Product Details

SNP ID
rs143495305
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:57705031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCCCTGTGATAGGATTGAAAGAG[C/T]TACTGAGAATAGGGGGCTTCTCAAT
Phenotype
MIM: 612385 MIM: 616715 MIM: 614586
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
MED19 PubMed Links

Gene Details

Gene
MED19
Gene Name
mediator complex subunit 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317078.1 560 Missense Mutation AAC,AGC N156S NP_001304007.1
NM_153450.2 560 Missense Mutation ACT,GCT T180A NP_703151.2
Gene
TMX2
Gene Name
thioredoxin related transmembrane protein 2
There are no transcripts associated with this gene.

Gene
TMX2-CTNND1
Gene Name
TMX2-CTNND1 readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
ZDHHC5
Gene Name
zinc finger DHHC-type containing 5
There are no transcripts associated with this gene.

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