Product Details

SNP ID

rs144494015

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:31326898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGACACAGCAGCTGCCTCATTTC[C/T]CTTCAGGCCCCATGGGCTGCTGGTC

Phenotype

MIM: 605165

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PATZ1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2240424] 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

PATZ1

Gene Name

POZ/BTB and AT hook containing zinc finger 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014323.2	2580	Missense Mutation			NP_055138.2
NM_032050.1	2580	Missense Mutation			NP_114439.1
NM_032051.1	2580	Intron			NP_114440.1
NM_032052.1	2580	UTR 3			NP_114441.1

Gene

PIK3IP1-AS1

Gene Name

PIK3IP1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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