Product Details

SNP ID

rs140167423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:56565148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAAATCCTCAGCTGCAGGAGCA[G/T]ATGCGGCCACAGCTCCCAGCCTTCC

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	1556	Missense Mutation	CAG,CAT	Q425H	NP_038472.2

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