Product Details

SNP ID

rs141458228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41603307 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGTGATGTAAGAAGGAATCTTC[C/T]GCCCAGTCAGGAACTGTGCCACTTC

Phenotype

MIM: 614637

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DESI1 PubMed Links

Gene Details

Gene

DESI1

Gene Name

desumoylating isopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015704.2	603	Missense Mutation	CAG,CGG	Q122R	NP_056519.1
XM_005261571.4	603	Missense Mutation	CAG,CGG	Q122R	XP_005261628.1

View Full Product Details