Product Details

SNP ID
rs143193027
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154785076 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGAGCTGTGCTTGGCCAGATATTT[G/T]TCTTTGTACTTCTTCTTCTTCCCAA
Phenotype
MIM: 300126 MIM: 305360
Polymorphism
G/T, Transversion 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_001166460.1 862 Missense Mutation GAA,GAC E236D NP_001159932.1
NM_001166461.1 862 Missense Mutation GAA,GAC E233D NP_001159933.1
NM_001166462.1 862 Missense Mutation GAA,GAC E223D NP_001159934.1
NM_002436.3 862 Missense Mutation GAA,GAC E253D NP_002427.1
XM_011531167.1 862 Missense Mutation GAA,GAC E253D XP_011529469.1
XM_011531169.1 862 Missense Mutation GAA,GAC E127D 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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