Product Details

SNP ID
rs200110654
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154781240 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATCGCGCACAACCTCTCCTCACC[C/T]GAGTGCCCTGGTCAGTAGGTGCAAT
Phenotype
MIM: 300126 MIM: 305360
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DKC1 PubMed Links

Gene Details

Gene
DKC1
Gene Name
dyskerin pseudouridine synthase 1
There are no transcripts associated with this gene.

Gene
MPP1
Gene Name
membrane palmitoylated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166460.1 1326 Missense Mutation CAG,CGG Q391R NP_001159932.1
NM_001166461.1 1326 Missense Mutation CAG,CGG Q388R NP_001159933.1
NM_001166462.1 1326 Missense Mutation CAG,CGG Q378R NP_001159934.1
NM_002436.3 1326 Missense Mutation CAG,CGG Q408R NP_002427.1
XM_011531167.1 1326 Missense Mutation CAG,CGG Q381R XP_011529469.1
XM_011531169.1 1326 Missense Mutation CAG,CGG Q282R XP_011529471.1
Gene
SNORA56
Gene Name
small nucleolar RNA, H/ACA box 56
There are no transcripts associated with this gene.

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