Product Details

SNP ID

rs116312453

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:111325068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTGTTTCAGCAAGGGCCAGCTC[C/T]CATCTTAATAAACCTGCACTGTTTC

Phenotype

MIM: 606080 MIM: 614234

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHIA PubMed Links

Gene Details

Gene

CHIA

Gene Name

chitinase, acidic

There are no transcripts associated with this gene.

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

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