Product Details

SNP ID
rs121912303
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154762970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGCACGCGGTGCAGGGTAACATGG[C/T]GGATGCGGAAGGTAAGGGCTGCAGG
Phenotype
MIM: 300126
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DKC1 PubMed Links

Gene Details

Gene
DKC1
Gene Name
dyskerin pseudouridine synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142463.2 229 Missense Mutation GCG,GTG A2V NP_001135935.1
NM_001288747.1 229 Missense Mutation GCG,GTG A2V NP_001275676.1
NM_001363.4 229 Missense Mutation GCG,GTG A2V NP_001354.1
Gene
MIR664B
Gene Name
microRNA 664b
There are no transcripts associated with this gene.

Gene
SNORA36A
Gene Name
small nucleolar RNA, H/ACA box 36A
There are no transcripts associated with this gene.

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