Product Details

SNP ID

rs139813306

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:27697010 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAAGTAGATTTGATAAGCTGGAA[G/T]AATTCTGTAACTTAATAGGAGAGGA

Phenotype

MIM: 603141 MIM: 610848

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PPFIBP1 PubMed Links

Gene Details

Gene

PPFIBP1

Gene Name

PPFIA binding protein 1

There are no transcripts associated with this gene.

Gene

REP15

Gene Name

RAB15 effector protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029874.1	516	Nonsense Mutation	GAA,TAA	E150*	NP_001025045.1

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