Product Details

SNP ID
rs202143000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42668201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCCGGGCGCTGGCTGGGAGGGG[A/G]GGTGTCTGGCAGGTCTTGGCATGGA
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 2611 Missense Mutation CCC,TCC P770S NP_079203.3
XM_017025113.1 2611 Missense Mutation CCC,TCC P859S XP_016880602.1
XM_017025114.1 2611 Missense Mutation CCC,TCC P856S XP_016880603.1
XM_017025115.1 2611 Missense Mutation CCC,TCC P815S XP_016880604.1
XM_017025116.1 2611 Missense Mutation CCC,TCC P814S XP_016880605.1
XM_017025117.1 2611 Missense Mutation CCC,TCC P799S XP_016880606.1
XM_017025118.1 2611 Missense Mutation CCC,TCC P767S XP_016880607.1
Gene
TUBG2
Gene Name
tubulin gamma 2
There are no transcripts associated with this gene.

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