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Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


Rs104894104

Hard Link
is a snp on gene CDKN2A (cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4))

GeneCDKN2A Chromosome number 9 Chromosome position 21971019
Alleles T/G/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.0002
Notation Clinical significance Likelypathogenic Orientation (dbSNP) - (negative/reverse strand)
Gene Function
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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