Product Details

SNP ID

rs28593087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19445149 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGTAGTACAGAATATTAAAGAT[C/T]CCCAAATGTCCATTCCCAATGCGGC

Phenotype

MIM: 605089 MIM: 601754

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C22orf39 PubMed Links

Gene Details

Gene

C22orf39

Gene Name

chromosome 22 open reading frame 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166242.1		Intron			NP_001159714.1
NM_173793.4		Intron			NP_776154.3

Gene

MRPL40

Gene Name

mitochondrial ribosomal protein L40

There are no transcripts associated with this gene.

Gene

UFD1L

Gene Name

ubiquitin fusion degradation 1 like (yeast)

There are no transcripts associated with this gene.

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