Product Details

SNP ID
rs144895713
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42668228 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCTGGCAGGTCTTGGCATGGAG[A/G]AGAAGAGCTGCTGCAGGGCCTCTCG
Phenotype
MIM: 605785
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLEKHH3 PubMed Links

Gene Details

Gene
PLEKHH3
Gene Name
pleckstrin homology, MyTH4 and FERM domain containing H3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024927.4 2584 Missense Mutation CCT,TCT P761S NP_079203.3
XM_017025113.1 2584 Missense Mutation CCT,TCT P850S XP_016880602.1
XM_017025114.1 2584 Missense Mutation CCT,TCT P847S XP_016880603.1
XM_017025115.1 2584 Missense Mutation CCT,TCT P806S XP_016880604.1
XM_017025116.1 2584 Missense Mutation CCT,TCT P805S XP_016880605.1
XM_017025117.1 2584 Missense Mutation CCT,TCT P790S XP_016880606.1
XM_017025118.1 2584 Missense Mutation CCT,TCT P758S XP_016880607.1
Gene
TUBG2
Gene Name
tubulin gamma 2
There are no transcripts associated with this gene.

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