Product Details

SNP ID

rs143087924

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:77697925 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCTTAGTATTGTCAATAGGACCT[C/G]GAGGATCTAAAGGAAAAAATATCAA

Phenotype

MIM: 615146

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

USP33 PubMed Links

Gene Details

Gene

USP33

Gene Name

ubiquitin specific peptidase 33

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015017.4	2983	Missense Mutation	CCA,CGA	P870R	NP_055832.3
NM_201624.2	2983	Missense Mutation	CCA,CGA	P839R	NP_963918.1
NM_201626.2	2983	Intron			NP_963920.1
XM_005270648.1	2983	Missense Mutation	CCA,CGA	P862R	XP_005270705.1
XM_005270649.1	2983	Missense Mutation	CAG,GAG	Q836E	XP_005270706.1
XM_011541055.1	2983	Missense Mutation	CCA,CGA	P771R	XP_011539357.1
XM_011541056.2	2983	Intron			XP_011539358.1
XM_017000722.1	2983	Missense Mutation	CCA,CGA	P831R	XP_016856211.1
XM_017000723.1	2983	Missense Mutation	CAG,GAG	Q805E	XP_016856212.1
XM_017000724.1	2983	Missense Mutation	CAG,GAG	Q797E	XP_016856213.1
XM_017000725.1	2983	Missense Mutation	CCA,CGA	P740R	XP_016856214.1
XM_017000726.1	2983	Missense Mutation	CCA,CGA	P732R	XP_016856215.1
XM_017000727.1	2983	Missense Mutation	CCA,CGA	P691R	XP_016856216.1
XM_017000728.1	2983	Missense Mutation	CCA,CGA	P691R	XP_016856217.1
XM_017000729.1	2983	Missense Mutation	CAG,GAG	Q737E	XP_016856218.1

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