Product Details

SNP ID

rs146749656

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:77697892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTAAGCATCACATTACCACATTTA[C/G]TGACTGCAATCTTAGTATTGTCAAT

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	3016	Missense Mutation	ACT,AGT	T881S	NP_055832.3
NM_201624.2	3016	Missense Mutation	ACT,AGT	T850S	NP_963918.1
NM_201626.2	3016	Intron			NP_963920.1
XM_005270648.1	3016	Missense Mutation	ACT,AGT	T873S	XP_005270705.1
XM_005270649.1	3016	Missense Mutation	CTA,GTA	L847V	XP_005270706.1
XM_011541055.1	3016	Missense Mutation	ACT,AGT	T782S	XP_011539357.1
XM_011541056.2	3016	Intron			XP_011539358.1
XM_017000722.1	3016	Missense Mutation	ACT,AGT	T842S	XP_016856211.1
XM_017000723.1	3016	Missense Mutation	CTA,GTA	L816V	XP_016856212.1
XM_017000724.1	3016	Missense Mutation	CTA,GTA	L808V	XP_016856213.1
XM_017000725.1	3016	Missense Mutation	ACT,AGT	T751S	XP_016856214.1
XM_017000726.1	3016	Missense Mutation	ACT,AGT	T743S	XP_016856215.1
XM_017000727.1	3016	Missense Mutation	ACT,AGT	T702S	XP_016856216.1
XM_017000728.1	3016	Missense Mutation	ACT,AGT	T702S	XP_016856217.1
XM_017000729.1	3016	Missense Mutation	CTA,GTA	L748V	XP_016856218.1

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