Product Details

SNP ID

rs145927798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:56565321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTCACTCCAGGTGTGGGGGTGG[G/T]GGTGCTGGGAACCGCTATAGGCCCT

Phenotype

MIM: 300264

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

UBQLN2 PubMed Links

Gene Details

Gene

UBQLN2

Gene Name

ubiquilin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013444.3	1729	Missense Mutation	GGG,GTG	G483V	NP_038472.2

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