RGD:127270162 Rat Genome Database

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Variant: RGD:127270162 -  Homo sapiens

RGD ID: 127270162
RS ID: rs1946485318
ClinVar ID: CV1100892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 12,870,779
GRCh38 12 12,717,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004064.5:c.6A>T
NG_016341.1:g.5478A>T
NC_000012.12:g.12717845A>T
NC_000012.11:g.12870779A>T
More... 		10/15/2020 synonymous variant likely benign MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN1B
Accession:NM_004064
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001441363 CLINVAR
dbSNP (RS) rs1946485318 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR