Product Details

SNP ID

rs146815350

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:162566161 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGCTTGAAGAAGCCCAACAGGT[A/G]GAACTTTATGCAGAGCTCCAGGCCA

Phenotype

MIM: 602862

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UAP1 PubMed Links

Gene Details

Gene

UAP1

Gene Name

UDP-N-acetylglucosamine pyrophosphorylase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324113.1	373	Silent Mutation	GTA,GTG	V31V	NP_001311042.1
NM_001324114.1	373	Silent Mutation	GTA,GTG	V31V	NP_001311043.1
NM_001324115.1	373	Silent Mutation	GTA,GTG	V31V	NP_001311044.1
NM_001324116.1	373	Silent Mutation	GTA,GTG	V31V	NP_001311045.1
NM_001324117.1	373	Silent Mutation	GTA,GTG	V31V	NP_001311046.1
NM_003115.4	373	Silent Mutation	GTA,GTG	V31V	NP_003106.3
XM_011509913.2	373	Silent Mutation	GTA,GTG	V31V	XP_011508215.1
XM_011509914.2	373	Silent Mutation	GTA,GTG	V31V	XP_011508216.1

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