Product Details

SNP ID

rs200438719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19433276 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTATCTTTCAGGCTTCTGGGAA[C/T]TTGGCAGACGCAGCTTAGAGAGACT

Phenotype

MIM: 600237 MIM: 605089

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C22orf39 PubMed Links

Gene Details

Gene

C22orf39

Gene Name

chromosome 22 open reading frame 39

There are no transcripts associated with this gene.

Gene

HIRA

Gene Name

histone cell cycle regulator

There are no transcripts associated with this gene.

Gene

MRPL40

Gene Name

mitochondrial ribosomal protein L40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318151.1	718	UTR 5			NP_001305080.1
NM_001318152.1	718	UTR 5			NP_001305081.1
NM_003776.3	718	Missense Mutation	ACT,ATT	T22I	NP_003767.2

View Full Product Details