RGD:21068800 Rat Genome Database

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Pathways
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Variant: RGD:21068800 -  Homo sapiens

RGD ID: 21068800
RS ID: rs61735615
ClinVar ID: CV788933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KISS1R  LOC127889820  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 919,559
GRCh38 19 919,559
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.439C>T
NG_008277.1:g.7218C>T
NC_000019.10:g.919559C>T
NC_000019.9:g.919559C>T
More... 		08/25/2019 missense variant uncertain significance Precocious puberty, central, 1; Precocious puberty, gonadotropin-dependent
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 S (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFSLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNP
LLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*

Gene Symbol:KISS1R
Accession:XM_047439545
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFSLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQVRGVGGRTARLGGRGGTVVGGAGGGICAGRDSPRGPGGAVRGDELSRAPAFRLTTFTAPPQGQVLAERAGAVRA
KVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCP
CAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000985004 CLINVAR
dbSNP (RS) rs61735615 CLINVAR
MedGen C3805879 CLINVAR
NCBI Gene KISS1R CLINVAR
OMIM 176400 CLINVAR
  604161 CLINVAR