Product Details

SNP ID: rs199863614
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:19432567 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCGAGGGTAGCCATGACGGCCTCC[C/G]TGCTGCGAAGTATCTCGCTAGCCCT
Phenotype: MIM: 600237 MIM: 605089
Polymorphism: C/G, Transversion 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003325.3	666	Intron			NP_003316.3

Gene: MRPL40
Gene Name: mitochondrial ribosomal protein L40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318151.1	666	UTR 5			NP_001305080.1
NM_001318152.1	666	Intron			NP_001305081.1
NM_003776.3	666	Missense Mutation	CTG,GTG	L5V	NP_003767.2

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