RGD:155987187 Rat Genome Database

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Pathways
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Variant: RGD:155987187 -  Homo sapiens

RGD ID: 155987187
ClinVar ID: CV2137018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KISS1R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 917,549
GRCh38 19 917,549
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032551.5:c.47C>T
NG_008277.1:g.5208C>T
NC_000019.10:g.917549C>T
NC_000019.9:g.917549C>T
More... 		07/06/2022 missense variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KISS1R
Accession:NM_032551
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGALANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNP
LLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*

Gene Symbol:KISS1R
Accession:XM_047439545
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGALANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQVRGVGGRTARLGGRGGTVVGGAGGGICAGRDSPRGPGGAVRGDELSRAPAFRLTTFTAPPQGQVLAERAGAVRA
KVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCP
CAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002996388 CLINVAR
  RCV003005177 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene KISS1R CLINVAR
OMIM 604161 CLINVAR