Product Details

SNP ID

rs1991

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:106094084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGGCTTTGGTTTGGGGATGTAC[C/T]GATTATTTGCCTGGTACTCGAGTTC

Phenotype

MIM: 609749

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

UXS1 PubMed Links

Gene Details

Gene

UXS1

Gene Name

UDP-glucuronate decarboxylase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001253875.1	1081	Missense Mutation	CAG,CGG	Q407R	NP_001240804.1
NM_001253876.1	1081	Missense Mutation	CAG,CGG	Q234R	NP_001240805.1
NM_025076.4	1081	Missense Mutation	CAG,CGG	Q402R	NP_079352.2
XM_006712775.3	1081	UTR 3			XP_006712838.1
XM_011511902.2	1081	Missense Mutation	CAG,CGG	Q401R	XP_011510204.2
XM_011511903.2	1081	Missense Mutation	CAG,CGG	Q396R	XP_011510205.2
XM_011511904.2	1081	Missense Mutation	CAG,CGG	Q347R	XP_011510206.1
XM_017005008.1	1081	Missense Mutation	CAG,CGG	Q353R	XP_016860497.1
XM_017005009.1	1081	Missense Mutation	CAG,CGG	Q348R	XP_016860498.1
XM_017005010.1	1081	UTR 3			XP_016860499.1
XM_017005011.1	1081	Missense Mutation	CAG,CGG	Q337R	XP_016860500.1
XM_017005012.1	1081	Missense Mutation	CAG,CGG	Q337R	XP_016860501.1
XM_017005013.1	1081	Missense Mutation	CAG,CGG	Q294R	XP_016860502.1
XM_017005014.1	1081	Missense Mutation	CAG,CGG	Q234R	XP_016860503.1

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