Product Details

SNP ID

rs138949224

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:230323469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCCAAGCCCAGCAGCTCTCTGA[C/T]GAGTCTCTCTCCAAACTGCGCCCGG

Phenotype

MIM: 616791

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PGBD5 PubMed Links

Gene Details

Gene

PGBD5

Gene Name

piggyBac transposable element derived 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258311.1	2600	Missense Mutation	ATC,GTC	I511V	NP_001245240.1
XM_017002330.1	2600	Missense Mutation	ATC,GTC	I422V	XP_016857819.1

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