Product Details

SNP ID

rs144622202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41601108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGGCAGTCCTGTTAGCTCTGGC[C/T]GTTGGGTCTGCCCACGGAGCTCCCT

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	714	Missense Mutation			NP_056519.1
XM_005261571.4	714	Intron			XP_005261628.1

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