Product Details

SNP ID
rs142299270
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:244653350 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTTAGTGGTGCTCAACGTGTAC[C/G]ACATGGTGAGTGCGGCCCCTGGCGG
Phenotype
MIM: 614638
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DESI2 PubMed Links

Gene Details

Gene
DESI2
Gene Name
desumoylating isopeptidase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297746.1 275 Missense Mutation CAC,GAC H13D NP_001284675.1
NM_016076.4 275 Missense Mutation CAC,GAC H13D NP_057160.2
XM_011544203.2 275 UTR 5 XP_011542505.1
XM_011544205.2 275 Intron XP_011542507.1
XM_011544206.2 275 UTR 5 XP_011542508.1
XM_011544207.2 275 Intron XP_011542509.1

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