Product Details

SNP ID

rs200748012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:83663963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGTTCCTGCTGTGGGACTTGTG[C/T]TTTCACTAGGTGTGGCGTTAGATCC

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	2019	Missense Mutation	AAC,AGC	N510S	NP_038466.2
NM_053067.2	2019	Missense Mutation	AAC,AGC	N482S	NP_444295.1
XM_005251948.2	2019	Intron			XP_005252005.1

View Full Product Details