Product Details

SNP ID
rs180694583
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:31328854 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTCAGGATGGGCTCCTGGTGCCT[A/G]GAGACCTGGGGAAGGGGAACACCGT
Phenotype
MIM: 605165
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PATZ1 PubMed Links

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 2239 Silent Mutation TCC,TCT S526S NP_055138.2
NM_032050.1 2239 Intron NP_114439.1
NM_032051.1 2239 Intron NP_114440.1
NM_032052.1 2239 Nonsense Mutation CAG,TAG Q505* 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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