Product Details

SNP ID
rs148251645
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:186383141 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAACTTGGATGAAGAATGGGCCAC[A/G]GAACATGCCTGCCAGGTTATCTTAT
Phenotype
MIM: 609335 MIM: 189940
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C1orf27 PubMed Links

Gene Details

Gene
C1orf27
Gene Name
chromosome 1 open reading frame 27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164245.1 454 Silent Mutation ACA,ACG T73T NP_001157717.1
NM_001164246.1 454 Silent Mutation ACA,ACG T73T NP_001157718.1
NM_017847.5 454 Silent Mutation ACA,ACG T73T NP_060317.3
XM_011509660.1 454 Silent Mutation ACA,ACG T73T XP_011507962.1
XM_011509661.1 454 Silent Mutation ACA,ACG T73T XP_011507963.1
XM_017001543.1 454 Silent Mutation ACA,ACG T73T XP_016857032.1
Gene
TPR
Gene Name
translocated promoter region, nuclear basket protein
There are no transcripts associated with this gene.

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