Product Details

SNP ID

rs4807494

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3631571 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGATGGATGCTGGGAGCCACGCGG[C/G]TGGCCGGTTCCCGAGGAGGGTCGGC

Phenotype

MIM: 606102

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CACTIN PubMed Links

Additional Information

For this assay, SNP(s) [rs74322196] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CACTIN

Gene Name

cactin, spliceosome C complex subunit

There are no transcripts associated with this gene.

Gene

PIP5K1C

Gene Name

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195733.1	3666	UTR 3			NP_001182662.1
NM_001300849.1	3666	Intron			NP_001287778.1
NM_012398.2	3666	UTR 3			NP_036530.1
XM_011527845.1	3666	Intron			XP_011526147.1
XM_011527846.1	3666	Intron			XP_011526148.1
XM_011527848.1	3666	Intron			XP_011526150.1
XM_011527849.1	3666	Intron			XP_011526151.1
XM_011527850.2	3666	Intron			XP_011526152.1
XM_011527851.2	3666	Intron			XP_011526153.1
XM_011527853.2	3666	Intron			XP_011526155.1
XM_017026540.1	3666	UTR 3			XP_016882029.1

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