Product Details

SNP ID

rs28384708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41621649 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATTGAGGAATTTGGGGAGGTTTTTG[A/G]GCGGTATTGAGGACGAGGGGGTCCG

Phenotype

MIM: 614637 MIM: 152690

Polymorphism

A/G, 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		Intron			NP_056519.1
XM_005261571.4		Intron			XP_005261628.1

Gene

XRCC6

Gene Name

X-ray repair cross complementing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288976.1		Intron			NP_001275905.1
NM_001288977.1		Intron			NP_001275906.1
NM_001288978.1		Intron			NP_001275907.1
NM_001469.4		Intron			NP_001460.1

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