Product Details

SNP ID
rs121913386
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:21971018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCAGCTCCTCAGCCAGGTCCACG[G/A]GCAGACGGCCCCAGGCATCGCGCAC
Phenotype
MIM: 600160
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
CDKN2A PubMed Links

Gene Details

Gene
CDKN2A
Gene Name
cyclin dependent kinase inhibitor 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000077.4 671 Missense Mutation CCC,CTC P114L NP_000068.1
NM_001195132.1 671 Missense Mutation CCC,CTC P114L NP_001182061.1
NM_058195.3 671 Silent Mutation GCC,GCT A128A NP_478102.2
NM_058197.4 671 UTR 3 NP_478104.2
XM_005251343.1 671 Missense Mutation CCC,CTC P63L XP_005251400.1
XM_011517675.2 671 Missense Mutation CCC,CTC P114L XP_011515977.1
XM_011517676.2 671 Missense Mutation CCC,CTC P114L XP_011515978.1
XM_011517679.1 671 Missense Mutation CCC,CTC P63L XP_011515981.1
Gene
CDKN2A-AS1
Gene Name
CDKN2A antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

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