RGD:151874185 Rat Genome Database

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Pathways
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Variant: RGD:151874185 -  Homo sapiens

RGD ID: 151874185
RS ID: rs1301565926
ClinVar ID: CV1369443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KISS1R  LOC127889821  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 920,092
GRCh38 19 920,092
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.920092G>C
NC_000019.9:g.920092G>C
NP_115940.2:p.Asp242His
NM_032551.5:c.724G>C
More... 		11/16/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KISS1R
Accession:NM_032551
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
AHSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNP
LLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*

Gene Symbol:KISS1R
Accession:XM_047439545
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
AHSALQVRGVGGRTARLGGRGGTVVGGAGGGICAGRDSPRGPGGAVRGDELSRAPAFRLTTFTAPPQGQVLAERAGAVRA
KVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCP
CAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002036052 CLINVAR
dbSNP (RS) rs1301565926 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KISS1R CLINVAR
OMIM 604161 CLINVAR