Product Details

SNP ID
rs143870030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46326566 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATGTGACGACACCCCTGATGGG[A/G]CAGGAGGGGCCTTTGCAGCTCAGGT
Phenotype
MIM: 605925
Polymorphism
A/G, 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_001315529.1 539 UTR 5 NP_001302458.1
NM_006031.5 539 Missense Mutation ACA,GCA T82A NP_006022.3
XM_005261124.4 539 Missense Mutation ACA,GCA T82A XP_005261181.1
XM_011529594.2 539 Missense Mutation ACA,GCA T82A XP_011527896.1
XM_017028362.1 539 Missense Mutation ACA,GCA T82A XP_016883851.1
XM_017028363.1 539 UTR 5 XP_016883852.1

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