Product Details

SNP ID
rs200548266
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:2929303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGCGCTTCTTCTTCCATAGCTGG[A/G]AGAGGCTGTCGCTGCGCTTCTCCAA
Phenotype
MIM: 602131 MIM: 602631
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PHLDA2 PubMed Links

Gene Details

Gene
PHLDA2
Gene Name
pleckstrin homology like domain family A member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003311.3 118 Missense Mutation TCC,TTC S21F NP_003302.1
Gene
SLC22A18
Gene Name
solute carrier family 22 member 18
There are no transcripts associated with this gene.

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