Product Details

SNP ID

rs200373449

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:19074873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGGTCCTTCAGGAAGCTCTCTG[C/G]ATCGGTGATTTCTGATAAAAGACCT

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	15492	Missense Mutation	CCA,GCA	P5171A	NP_065816.2
XM_011541108.2	15492	Missense Mutation	CCA,GCA	P5222A	XP_011539410.1
XM_011541109.2	15492	Missense Mutation	CCA,GCA	P5221A	XP_011539411.1
XM_011541110.2	15492	Missense Mutation	CCA,GCA	P5221A	XP_011539412.1
XM_011541111.2	15492	Missense Mutation	CCA,GCA	P5221A	XP_011539413.1
XM_011541112.2	15492	Missense Mutation	CCA,GCA	P5217A	XP_011539414.1
XM_011541113.2	15492	Missense Mutation	CCA,GCA	P5216A	XP_011539415.1
XM_011541114.2	15492	Missense Mutation	CCA,GCA	P5216A	XP_011539416.1
XM_011541115.2	15492	Missense Mutation	CCA,GCA	P5214A	XP_011539417.1
XM_011541116.2	15492	Missense Mutation	CCA,GCA	P5211A	XP_011539418.1
XM_011541117.2	15492	Missense Mutation	CCA,GCA	P5194A	XP_011539419.1
XM_011541118.2	15492	Missense Mutation	CCA,GCA	P5193A	XP_011539420.1
XM_011541119.2	15492	Missense Mutation	CCA,GCA	P5182A	XP_011539421.1
XM_011541120.2	15492	Missense Mutation	CCA,GCA	P5181A	XP_011539422.1
XM_011541121.2	15492	Missense Mutation	CCA,GCA	P5170A	XP_011539423.1
XM_017000822.1	15492	Missense Mutation	CCA,GCA	P5215A	XP_016856311.1
XM_017000823.1	15492	Missense Mutation	CCA,GCA	P5206A	XP_016856312.1
XM_017000824.1	15492	Missense Mutation	CCA,GCA	P5188A	XP_016856313.1
XM_017000825.1	15492	Missense Mutation	CCA,GCA	P5183A	XP_016856314.1
XM_017000826.1	15492	Missense Mutation	CCA,GCA	P5182A	XP_016856315.1
XM_017000827.1	15492	Missense Mutation	CCA,GCA	P5177A	XP_016856316.1
XM_017000828.1	15492	Missense Mutation	CCA,GCA	P5169A	XP_016856317.1
XM_017000829.1	15492	Missense Mutation	CCA,GCA	P5153A	XP_016856318.1
XM_017000830.1	15492	Missense Mutation	CCA,GCA	P5136A	XP_016856319.1

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