Product Details

SNP ID

rs200050129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:27028418 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGATATTGCACAGTCACAGCTGA[A/G]GACAAGAAGTGGTACCCATAGCCAG

Phenotype

MIM: 603800

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MED21 PubMed Links

Gene Details

Gene

MED21

Gene Name

mediator complex subunit 21

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271811.1	448	UTR 3			NP_001258740.1
NM_004264.4	448	Missense Mutation	AAG,AGG	K131R	NP_004255.2

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