Product Details

SNP ID
rs200232668
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:1726621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTCACGTTTGGCTATAAACTCCA[C/G]GGTAAGGAGGCTGTCAAGGAAAAGA
Phenotype
MIM: 614218
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
WDR81 PubMed Links

Gene Details

Gene
WDR81
Gene Name
WD repeat domain 81
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163673.1 1791 Intron NP_001157145.1
NM_001163809.1 1791 Missense Mutation CAC,CAG H554Q NP_001157281.1
NM_001163811.1 1791 Intron NP_001157283.1
NM_152348.3 1791 Intron NP_689561.2
XM_011523651.2 1791 Intron XP_011521953.1
XM_017024184.1 1791 Missense Mutation CAC,CAG H554Q XP_016879673.1

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