Product Details

SNP ID

rs142669512

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:83661872 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTAGAGCTTGCAAGTTTGCTTCA[C/T]GGTTCAAAAATCCCATTGCACTGAG

Phenotype

MIM: 605046

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

UBQLN1 PubMed Links

Gene Details

Gene

UBQLN1

Gene Name

ubiquilin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013438.4	2175	Missense Mutation	CAT,CGT	H562R	NP_038466.2
NM_053067.2	2175	Missense Mutation	CAT,CGT	H534R	NP_444295.1
XM_005251948.2	2175	Intron			XP_005252005.1

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