Product Details

SNP ID

rs141011381

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:43644784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAAGCAAGCAAGATACGAGAGCT[C/T]TTAGCAGAGAAGGTAAGCTTTCTCC

Phenotype

MIM: 612723

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PLEKHH2 PubMed Links

Additional Information

For this assay, SNP(s) [rs12105773] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PLEKHH2

Gene Name

pleckstrin homology, MyTH4 and FERM domain containing H2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_172069.3	194	Silent Mutation	CTC,CTT	L37L	NP_742066.2
XM_017003351.1	194	Intron			XP_016858840.1
XM_017003352.1	194	Silent Mutation	CTC,CTT	L37L	XP_016858841.1
XM_017003353.1	194	UTR 5			XP_016858842.1

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