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SNP ID: rs201985105
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:57712646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCGGTCTTGGCACCTCTAATTGCT[C/T]TCGTGTATTCGGTGCCGCGACTTTC
Phenotype: MIM: 612385 MIM: 616715
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	124	Intron			NP_001304007.1
NM_153450.2	124	Intron			NP_703151.2

Gene: TMX2
Gene Name: thioredoxin related transmembrane protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144012.2	124	Missense Mutation	CTC,TTC	L10F	NP_001137484.1
NM_015959.3	124	Missense Mutation	CTC,TTC	L10F	NP_057043.1

Gene: TMX2-CTNND1
Gene Name: TMX2-CTNND1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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