RGD:151776575 Rat Genome Database

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Pathways
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Variant: RGD:151776575 -  Homo sapiens

RGD ID: 151776575
RS ID: rs2037114406
ClinVar ID: CV1436503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KISS1R  LOC127889821  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 920,674
GRCh38 19 920,674
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.1123G>A
NG_008277.1:g.8333G>A
NC_000019.10:g.920674G>A
NC_000019.9:g.920674G>A
More... 		10/08/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KISS1R
Accession:NM_032551
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNP
LLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARTQKPGSSGLAARGLCVLGEDNAPL*

Gene Symbol:KISS1R
Accession:XM_047439545
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 436
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQVRGVGGRTARLGGRGGTVVGGAGGGICAGRDSPRGPGGAVRGDELSRAPAFRLTTFTAPPQGQVLAERAGAVRA
KVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCP
CAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARTQKPGSSGLAARGLCVLGEDNAPL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001971684 CLINVAR
dbSNP (RS) rs2037114406 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KISS1R CLINVAR
OMIM 604161 CLINVAR