Product Details

SNP ID

rs189357052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:57704997 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGCCAGTGTGGAGGCGGAAGCC[A/G]GCCAGCATGGTCCCTGTGATAGGAT

Phenotype

MIM: 612385 MIM: 616715 MIM: 614586

Polymorphism

A/G, 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	594	Silent Mutation	GCC,GCT	A167A	NP_001304007.1
NM_153450.2	594	UTR 3			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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