RGD:11593703 Rat Genome Database

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Variant: RGD:11593703 -  Homo sapiens

RGD ID: 11593703
RS ID: rs143073792
ClinVar ID: CV293276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TACR3  TACR3-AS1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 104,510,991
GRCh38 4 103,589,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023344.1:g.134983A>T
NC_000004.12:g.103589834T>A
NC_000004.11:g.104510991T>A
NP_001050.1:p.Asn416Tyr
More... 		04/01/2022 missense variant benign|likely benign|uncertain significance AllHighlyPenetrant; HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TACR3
Accession:NM_001059
Location:EXON
Amino Acid Prediction: N to Y (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLPAAETWIDGGGGVGADAVNLTASLAAGAATGAVETGWLQLLDQAGNLSSSPSALGLPVASPAPSQPWANLTNQFVQ
PSWRIALWSLAYGVVVAVAVLGNLIVIWIILAHKRMRTVTNYFLVNLAFSDASMAAFNTLVNFIYALHSEWYFGANYCRF
QNFFPITAVFASIYSMTAIAVDRYMAIIDPLKPRLSATATKIVIGSIWILAFLLAFPQCLYSKTKVMPGRTLCFVQWPEG
PKQHFTYHIIVIILVYCFPLLIMGITYTIVGITLWGGEIPGDTCDKYHEQLKAKRKVVKMMIIVVMTFAICWLPYHIYFI
LTAIYQQLNRWKYIQQVYLASFWLAMSSTMYNPIIYCCLNKRFRAGFKRAFRWCPFIKVSSYDELELKTTRFHPNRQSSM
YTVTRMESMTVVFDPYDADTTRSSRKKRATPRDPSFNGCSRRNSKSASATSSFISSPYTSVDEYS*

Gene Symbol:TACR3-AS1
Accession:NR_186501
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000351253 CLINVAR
  RCV000891874 CLINVAR
  RCV001821051 CLINVAR
  RCV003957798 CLINVAR
dbSNP (RS) rs143073792 CLINVAR
MedGen C3553844 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TACR3 CLINVAR
  TACR3-AS1 CLINVAR
OMIM 162332 CLINVAR
  614840 CLINVAR