Product Details

SNP ID

rs77409148

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:56565318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAGCTTCACTCCAGGTGTGGGGG[G/T]GGGGGTGCTGGGAACCGCTATAGGC

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	1726	Missense Mutation	GGG,GTG	G482V	NP_038472.2

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