Product Details

SNP ID
rs139569326
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:29673879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCAACACGGAGATCAACAGCCAG[C/T]GCATCGCGGCAGTGGAGAGCTGCTT
Phenotype
MIM: 615200
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLEKHF1 PubMed Links

Gene Details

Gene
PLEKHF1
Gene Name
pleckstrin homology and FYVE domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024310.4 142 Missense Mutation CGC,TGC R14C NP_077286.3
XM_005259256.3 142 Missense Mutation CGC,TGC R99C XP_005259313.1
XM_011527309.2 142 Missense Mutation CGC,TGC R14C XP_011525611.1

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