Product Details

SNP ID
rs201703639
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43478110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAATGGCCTGGAAGTAGATGACACC[A/T]TTGAGCTTGGTCTCTTCCTTGTCTG
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PHLDB3 PubMed Links

Gene Details

Gene
PHLDB3
Gene Name
pleckstrin homology like domain family B member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198850.3 2156 Missense Mutation AAA,AAT K575N NP_942147.3
XM_005259169.3 2156 Missense Mutation AAA,AAT K570N XP_005259226.1
XM_005259170.3 2156 Missense Mutation AAA,AAT K536N XP_005259227.1
XM_005259171.3 2156 Intron XP_005259228.1
XM_011527236.2 2156 Missense Mutation AAA,AAT K570N XP_011525538.1

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