Product Details

SNP ID

rs200769603

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:157138956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATTCTGAATCATTTCAATTACT[C/T]GTTCCAGGTGCTTTTGAAATCTCTC

Phenotype

MIM: 605045

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MED7 PubMed Links

Gene Details

Gene

MED7

Gene Name

mediator complex subunit 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100816.1	584	Missense Mutation	CAA,CGA	Q159R	NP_001094286.1
NM_004270.4	584	Missense Mutation	CAA,CGA	Q159R	NP_004261.1

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