Product Details

SNP ID

rs12085442

Assay Type

Functionally tested

NCBI dbSNP Submissions

21

Location

Chr.1:111333864 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCATCTGCAATCAGCCCTCTTGC[G/T]GATGTTCAGAACCTCATAACCAGAA

Phenotype

MIM: 614234

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PIFO PubMed Links

Gene Details

Gene

PIFO

Gene Name

primary cilia formation

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300831.1		Intron			NP_001287760.1
NM_181643.5		Intron			NP_857594.2
XM_005270472.1		Intron			XP_005270529.1
XM_017000322.1		Intron			XP_016855811.1

View Full Product Details