Product Details

SNP ID

rs149898423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119357286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCCGGAGTGATTGGACACAGCG[A/T]ACAGGTTGTAAACAGCATGGTCTGA

Phenotype

MIM: 604725

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

USP2 PubMed Links

Gene Details

Gene

USP2

Gene Name

ubiquitin specific peptidase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243759.1	887	Missense Mutation	TAC,TTC	Y301F	NP_001230688.1
NM_004205.4	887	Missense Mutation	TAC,TTC	Y544F	NP_004196.4
NM_171997.2	887	Missense Mutation	TAC,TTC	Y335F	NP_741994.1
XM_005271721.4	887	Missense Mutation	TAC,TTC	Y544F	XP_005271778.1
XM_005271722.2	887	Missense Mutation	TAC,TTC	Y544F	XP_005271779.1
XM_017018539.1	887	Missense Mutation	TAC,TTC	Y291F	XP_016874028.1

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