rs751542011 Rat Genome Database

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Variant: rs751542011 -  Homo sapiens

RGD ID: 14691754
RS ID: rs751542011
ClinVar ID: CV617548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  LOC130001603  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 21,974,843
GRCh38 9 21,974,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000077.4:c.-17G>T
LRG_11t1:c.-17G>T
LRG_11:g.24648G>T
NG_007485.1:g.24648G>T
More... 		12/17/2018 5 prime utr variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_001195132
Location:5UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_000077
Location:5UTRS;EXON

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:5UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:5UTRS;EXON

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:5UTRS;EXON

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000772425 CLINVAR
  RCV004768636 CLINVAR
dbSNP (RS) rs751542011 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN2A CLINVAR
  LOC130001603 CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR