RGD:8645137 Rat Genome Database

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Variant: RGD:8645137 -  Homo sapiens

RGD ID: 8645137
RS ID: rs62635047
ClinVar ID: CV104541
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: GPR143  LOC105373126  
Reference Nucleotide: -
Variant Nucleotide: CG
Position
Assembly Chr Position
GRCh37 X 9,707,713
GRCh38 X 9,739,673
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009074.1:g.31204_31205insCG
NC_000023.11:g.9739673_9739674insCG
NC_000023.10:g.9707713_9707714insCG
NM_000273.3:c.931_932insCG
More...
frameshift|frameshift variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:GPR143
Accession:XM_024452388
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGL
ATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGAVIKI
RFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPR
KEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL
*

Gene Symbol:GPR143
Accession:NM_000273
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLL
GCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIM
AWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGA
VIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGF
QSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPT
HGDL*

Gene Symbol:GPR143
Accession:XM_005274541
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLL
GCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIM
AWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGA
VIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGF
QSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEDEMNARTLTKVGP*

Gene Symbol:LOC105373126
Accession:XR_950507
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000084952 CLINVAR
dbSNP (RS) rs62635047 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GPR143 CLINVAR
OMIM 300808 CLINVAR