RGD:152108894 Rat Genome Database

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Variant: RGD:152108894 -  Homo sapiens

RGD ID: 152108894
RS ID: rs2136356327
ClinVar ID: CV1648381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 12,871,148
GRCh38 12 12,718,214
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.375T>C
NG_016341.1:g.5847T>C
NC_000012.12:g.12718214T>C
NC_000012.11:g.12871148T>C
More... 		12/02/2020 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: 125
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 RCV002116286 CLINVAR
dbSNP (RS) rs2136356327 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR