Product Details

SNP ID

rs141889497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:111897220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGGTCCGGCGGGCCGGGGGATGG[C/T]GCTGCTGGACCTGGCCTTGGAGGGA

Phenotype

MIM: 602874

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

UGCG PubMed Links

Gene Details

Gene

UGCG

Gene Name

UDP-glucose ceramide glucosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003358.2	455	Missense Mutation	GCG,GTG	A2V	NP_003349.1
XM_005252186.4	455	UTR 5			XP_005252243.1
XM_017015107.1	455	Missense Mutation	GCG,GTG	A2V	XP_016870596.1

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