Product Details

SNP ID

rs201975297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:163367 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTAGAATTGAATACAGATGAACCT[C/T]CAATGGTATTCAAGGCTCAGCTGTT

Phenotype

MIM: 607274

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

USP14 PubMed Links

Gene Details

Gene

USP14

Gene Name

ubiquitin specific peptidase 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037334.1	292	Missense Mutation	CCA,TCA	P26S	NP_001032411.1
NM_005151.3	292	Missense Mutation	CCA,TCA	P26S	NP_005142.1

View Full Product Details