Product Details

SNP ID
rs148080319
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46326526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCGCACTCTGTGGAGGAGGGGA[C/T]ATTTGCAAAAGCACATCATGTGACG
Phenotype
MIM: 605925
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C21orf58 PubMed Links

Gene Details

Gene
C21orf58
Gene Name
chromosome 21 open reading frame 58
There are no transcripts associated with this gene.

Gene
PCNT
Gene Name
pericentrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001315529.1 499 UTR 5 NP_001302458.1
NM_006031.5 499 Silent Mutation GAC,GAT D68D NP_006022.3
XM_005261124.4 499 Silent Mutation GAC,GAT D68D XP_005261181.1
XM_011529594.2 499 Silent Mutation GAC,GAT D68D XP_011527896.1
XM_017028362.1 499 Silent Mutation GAC,GAT D68D XP_016883851.1
XM_017028363.1 499 UTR 5 XP_016883852.1

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