Product Details

SNP ID

rs188692079

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:83661873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAGAGCTTGCAAGTTTGCTTCAC[A/G]GTTCAAAAATCCCATTGCACTGAGT

Phenotype

MIM: 605046

Polymorphism

A/G, 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	2174	Missense Mutation	CGT,TGT	R562C	NP_038466.2
NM_053067.2	2174	Missense Mutation	CGT,TGT	R534C	NP_444295.1
XM_005251948.2	2174	Intron			XP_005252005.1

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