Product Details

SNP ID
rs147506590
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42663404 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCCAAGAAGCTAGTGCAGACTTA[C/T]TCAGTGTTTCCCTACCAGGACGAGA
Phenotype
MIM: 605785
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLEKHH3 PubMed Links

Gene Details

Gene
PLEKHH3
Gene Name
pleckstrin homology, MyTH4 and FERM domain containing H3
There are no transcripts associated with this gene.

Gene
TUBG2
Gene Name
tubulin gamma 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320509.1 678 Silent Mutation TAC,TAT Y178Y NP_001307438.1
NM_016437.2 678 Silent Mutation TAC,TAT Y169Y NP_057521.1
XM_011524614.2 678 Nonsense Mutation TAC,TAT Y16Y XP_011522916.1
XM_017024453.1 678 Nonsense Mutation TAC,TAT Y16Y XP_016879942.1
XM_017024454.1 678 UTR 5 XP_016879943.1
XM_017024455.1 678 UTR 5 XP_016879944.1
XM_017024456.1 678 UTR 5 XP_016879945.1
XM_017024457.1 678 UTR 5 XP_016879946.1

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