Product Details

SNP ID
rs139921288
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82616526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTCCAGGAAGGACCACTCACCA[A/G]TGACGGCGTTTGGCTCTGTTCCAAA
Phenotype
MIM: 609226
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
WDR45B PubMed Links

Gene Details

Gene
WDR45B
Gene Name
WD repeat domain 45B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019613.3 1121 Missense Mutation ACT,ATT T309I NP_062559.2
XM_005256377.4 1121 Intron XP_005256434.1
XM_017024862.1 1121 Intron XP_016880351.1
XM_017024863.1 1121 Intron XP_016880352.1

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