Product Details

SNP ID

rs12147983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:69479424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCTTGGGGCCTTGAAAAGAGCA[C/T]GCATGATGGTGGGGAGCTGGATTAT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLEKHD1 PubMed Links

Gene Details

Gene

PLEKHD1

Gene Name

pleckstrin homology and coiled-coil domain containing D1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161498.1		Intron			NP_001154970.1
XM_011536762.2		Intron			XP_011535064.1
XM_011536763.2		Intron			XP_011535065.1
XM_017021290.1		Intron			XP_016876779.1

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