Product Details

SNP ID

rs201322816

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:113801495 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAGCATATACCTGCAATATCTT[A/G]CCCAAGGTAAGAGCACCAATGGTTT

Phenotype

MIM: 610748

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

USP28 PubMed Links

Gene Details

Gene

USP28

Gene Name

ubiquitin specific peptidase 28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301029.1	3300	Nonsense Mutation	CAA,TAA	Q859*	NP_001287958.1
NM_020886.3	3300	Nonsense Mutation	CAA,TAA	Q1016*	NP_065937.1
XM_005271630.2	3300	Nonsense Mutation	CAA,TAA	Q1079*	XP_005271687.1
XM_005271631.2	3300	Nonsense Mutation	CAA,TAA	Q1078*	XP_005271688.1
XM_005271632.2	3300	Nonsense Mutation	CAA,TAA	Q1076*	XP_005271689.1
XM_005271633.4	3300	Nonsense Mutation	CAA,TAA	Q1057*	XP_005271690.1
XM_005271636.2	3300	Nonsense Mutation	CAA,TAA	Q1019*	XP_005271693.1
XM_005271637.2	3300	Nonsense Mutation	CAA,TAA	Q1017*	XP_005271694.1
XM_005271638.2	3300	Nonsense Mutation	CAA,TAA	Q985*	XP_005271695.1
XM_005271639.2	3300	Nonsense Mutation	CAA,TAA	Q984*	XP_005271696.1
XM_011542936.2	3300	Nonsense Mutation	CAA,TAA	Q1053*	XP_011541238.1
XM_011542938.1	3300	Nonsense Mutation	CAA,TAA	Q954*	XP_011541240.1
XM_011542941.1	3300	Nonsense Mutation	CAA,TAA	Q726*	XP_011541243.1
XM_011542942.1	3300	Nonsense Mutation	CAA,TAA	Q635*	XP_011541244.1
XM_017018056.1	3300	Nonsense Mutation	CAA,TAA	Q1052*	XP_016873545.1
XM_017018057.1	3300	Nonsense Mutation	CAA,TAA	Q1013*	XP_016873546.1
XM_017018058.1	3300	Nonsense Mutation	CAA,TAA	Q990*	XP_016873547.1
XM_017018059.1	3300	Nonsense Mutation	CAA,TAA	Q958*	XP_016873548.1
XM_017018060.1	3300	Nonsense Mutation	CAA,TAA	Q953*	XP_016873549.1
XM_017018061.1	3300	Nonsense Mutation	CAA,TAA	Q892*	XP_016873550.1
XM_017018062.1	3300	Nonsense Mutation	CAA,TAA	Q891*	XP_016873551.1
XM_017018063.1	3300	Nonsense Mutation	CAA,TAA	Q791*	XP_016873552.1
XM_017018064.1	3300	Nonsense Mutation	CAA,TAA	Q729*	XP_016873553.1
XM_017018065.1	3300	Nonsense Mutation	CAA,TAA	Q664*	XP_016873554.1
XM_017018066.1	3300	Nonsense Mutation	CAA,TAA	Q664*	XP_016873555.1
XM_017018067.1	3300	Nonsense Mutation	CAA,TAA	Q664*	XP_016873556.1
XM_017018068.1	3300	Nonsense Mutation	CAA,TAA	Q632*	XP_016873557.1
XM_017018069.1	3300	Intron			XP_016873558.1

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