Product Details

SNP ID

rs111240422

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:43385046 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCGAGGTTGCCAGCCACACTCAC[C/T]GCTGGTAGGGATGCATGGAAGCCGA

Phenotype

MIM: 607956 MIM: 615463

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MED8 PubMed Links

Gene Details

Gene

MED8

Gene Name

mediator complex subunit 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001653.2	851	Missense Mutation	CAG,CGG	Q179R	NP_001001653.1
NM_052877.4	851	Missense Mutation	CAG,CGG	Q268R	NP_443109.2
NM_201542.4	851	Missense Mutation	CAG,CGG	Q268R	NP_963836.2

Gene

SZT2

Gene Name

seizure threshold 2 homolog (mouse)

There are no transcripts associated with this gene.

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