Product Details

SNP ID
rs144845406
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154784071 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCTTGAATGCAGGGAGCCGAAC[A/G]ACTTCCTCGTAGGAAACAACATCCA
Phenotype
MIM: 300126 MIM: 305360
Polymorphism
A/G, 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_001166460.1 925 Silent Mutation GTC,GTT V257V NP_001159932.1
NM_001166461.1 925 Silent Mutation GTC,GTT V254V NP_001159933.1
NM_001166462.1 925 Silent Mutation GTC,GTT V244V NP_001159934.1
NM_002436.3 925 Silent Mutation GTC,GTT V274V NP_002427.1
XM_011531167.1 925 Intron XP_011529469.1
XM_011531169.1 925 Silent Mutation GTC,GTT V148V 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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