Product Details

SNP ID

rs199727154

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:56565728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAATGCAGCCATTGAAAGGCTG[C/T]TGGGCTCCCAGCCATCGTAATCACA

Phenotype

MIM: 300264

Polymorphism

C/T, Transition 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	2136	Silent Mutation	CTG,TTG	L619L	NP_038472.2

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