Product Details

SNP ID
rs112096085
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39063060 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACACATTTGTCAGGTTTCCTATG[C/T]TATTCGAGATGAAGTGGAGAAGTAC
Phenotype
MIM: 612167
Polymorphism
C/T, 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 99 UTR 5 NP_001290331.1
NM_001303403.1 99 Missense Mutation GCT,GTT A20V NP_001290332.1
NM_020839.3 99 Missense Mutation GCT,GTT A20V NP_065890.1
XM_005265346.3 99 Missense Mutation GCT,GTT A20V XP_005265403.1
XM_011533971.1 99 UTR 5 XP_011532273.1
XM_017006960.1 99 UTR 5 XP_016862449.1

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