Product Details

SNP ID

rs117655373

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41598051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGCAGCAGGCAGAAATGAGTTTA[C/T]TGCATTAGAAAAAACACCGAAGAAA

Phenotype

MIM: 614637 MIM: 601786

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	3771	UTR 3			NP_056519.1
XM_005261571.4	3771	Intron			XP_005261628.1

Gene

PMM1

Gene Name

phosphomannomutase 1

There are no transcripts associated with this gene.

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