Product Details

SNP ID

rs200216820

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:161416666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCCAGAGAAGTAAACTCTCTCCT[G/T]TCTTGGACGGGGTCTCTGAGCTTCG

Phenotype

MIM: 607173 MIM: 604616

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PSMD14 PubMed Links

Gene Details

Gene

PSMD14

Gene Name

proteasome 26S subunit, non-ATPase 14

There are no transcripts associated with this gene.

Gene

TBR1

Gene Name

T-box, brain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006593.3	573	Missense Mutation	GTC,TTC	V86F	NP_006584.1

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