Product Details

SNP ID
rs199705206
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39063138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGATCCAGCACTAAATAGACTTT[T/C]CACAGCCGGTCGAGACTCTATCATA
Phenotype
MIM: 612167
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
WDR48 PubMed Links

Gene Details

Gene
WDR48
Gene Name
WD repeat domain 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303402.1 177 UTR 5 NP_001290331.1
NM_001303403.1 177 Missense Mutation TCC,TTC S46F NP_001290332.1
NM_020839.3 177 Missense Mutation TCC,TTC S46F NP_065890.1
XM_005265346.3 177 Missense Mutation TCC,TTC S46F XP_005265403.1
XM_011533971.1 177 UTR 5 XP_011532273.1
XM_017006960.1 177 UTR 5 XP_016862449.1

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