Product Details

SNP ID

rs181943543

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:161420228 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTGAAAATAGATCACAACCCTTT[C/T]GCAAAAGGATTTCGGGATAATTATG

Phenotype

MIM: 607173 MIM: 604616

Polymorphism

C/T, Transition 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	1478	Silent Mutation	TTC,TTT	F387F	NP_006584.1

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