Product Details

SNP ID

rs140468911

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:19074842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCTGTGTGGTGGTCAGGGGACT[C/G]AGTTCAACAGGTCCTTCAGGAAGCT

Phenotype

MIM: 609890

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

UBR4 PubMed Links

Gene Details

Gene

UBR4

Gene Name

ubiquitin protein ligase E3 component n-recognin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020765.2	15523	Missense Mutation	TCA,TGA	S5181*	NP_065816.2
XM_011541108.2	15523	Missense Mutation	TCA,TGA	S5232*	XP_011539410.1
XM_011541109.2	15523	Missense Mutation	TCA,TGA	S5231*	XP_011539411.1
XM_011541110.2	15523	Missense Mutation	TCA,TGA	S5231*	XP_011539412.1
XM_011541111.2	15523	Nonsense Mutation	TCA,TGA	S5231*	XP_011539413.1
XM_011541112.2	15523	Missense Mutation	TCA,TGA	S5227*	XP_011539414.1
XM_011541113.2	15523	Missense Mutation	TCA,TGA	S5226*	XP_011539415.1
XM_011541114.2	15523	Missense Mutation	TCA,TGA	S5226*	XP_011539416.1
XM_011541115.2	15523	Missense Mutation	TCA,TGA	S5224*	XP_011539417.1
XM_011541116.2	15523	Missense Mutation	TCA,TGA	S5221*	XP_011539418.1
XM_011541117.2	15523	Missense Mutation	TCA,TGA	S5204*	XP_011539419.1
XM_011541118.2	15523	Missense Mutation	TCA,TGA	S5203*	XP_011539420.1
XM_011541119.2	15523	Missense Mutation	TCA,TGA	S5192*	XP_011539421.1
XM_011541120.2	15523	Missense Mutation	TCA,TGA	S5191*	XP_011539422.1
XM_011541121.2	15523	Missense Mutation	TCA,TGA	S5180*	XP_011539423.1
XM_017000822.1	15523	Missense Mutation	TCA,TGA	S5225*	XP_016856311.1
XM_017000823.1	15523	Missense Mutation	TCA,TGA	S5216*	XP_016856312.1
XM_017000824.1	15523	Missense Mutation	TCA,TGA	S5198*	XP_016856313.1
XM_017000825.1	15523	Missense Mutation	TCA,TGA	S5193*	XP_016856314.1
XM_017000826.1	15523	Missense Mutation	TCA,TGA	S5192*	XP_016856315.1
XM_017000827.1	15523	Missense Mutation	TCA,TGA	S5187*	XP_016856316.1
XM_017000828.1	15523	Missense Mutation	TCA,TGA	S5179*	XP_016856317.1
XM_017000829.1	15523	Missense Mutation	TCA,TGA	S5163*	XP_016856318.1
XM_017000830.1	15523	Missense Mutation	TCA,TGA	S5146*	XP_016856319.1

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