RGD:15152922 Rat Genome Database

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Variant: RGD:15152922 -  Homo sapiens

RGD ID: 15152922
RS ID: rs142718878
ClinVar ID: CV717715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RENBP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,208,365
GRCh38 X 153,942,913
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002910.6:c.629C>T
NG_012522.1:g.6868C>T
NC_000023.11:g.153942913G>A
NC_000023.10:g.153208365G>A
More... 		12/11/2017 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RENBP
Accession:XM_017029698
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKERETLQAWKERVGQELDRVVAFWMEHSHDQEHGGFFTCLGREGRVYDDLKYVWLQGRQVWMYCRLYRTFERFRHAQL
LDAAKAGGEFLLRYARVAPPGKKCAFVLTRDGRPVKVQRTIFSECFYTMAMNELWRATGEVRYQTEAVEMMDQIVHWVQE
DASGLGRPQLQGAPAAEPMAVPMMLLNLVEQLGEADEELVGKYAELGDWCARRILQHVQRDGQAVLENVSEGGKELPGCL
GRQQNPGHTLEAGWFLLRHCIRKGDPELRAHVIDKFLLLPFHSGWDPDHGGLFYFQDADNFCPTQLEWAMKLWWPHSEAM
IAFLMGYSDSGDPVLLRLFYQVAEYTFRQFRDPEYGEWFGYLSREGKVALSIKGGPFKGCFHVPRCLAMCEEMLGALLSR
PAPAPSPAPTPACRGAE*

Gene Symbol:RENBP
Accession:NM_002910
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGLPARQDMEKERETLQAWKERVGQELDRVVAFWMEHSHDQEHGGFFTCLGREGRVYDDLKYVWLQGRQVWMYCRLYR
TFERFRHAQLLDAAKAGGEFLLRYARVAPPGKKCAFVLTRDGRPVKVQRTIFSECFYTMAMNELWRATGEVRYQTEAVEM
MDQIVHWVQEDASGLGRPQLQGAPAAEPMAVPMMLLNLVEQLGEADEELVGKYAELGDWCARRILQHVQRDGQAVLENVS
EGGKELPGCLGRQQNPGHTLEAGWFLLRHCIRKGDPELRAHVIDKFLLLPFHSGWDPDHGGLFYFQDADNFCPTQLEWAM
KLWWPHSEAMIAFLMGYSDSGDPVLLRLFYQVAEYTFRQFRDPEYGEWFGYLSREGKVALSIKGGPFKGCFHVPRCLAMC
EEMLGALLSRPAPAPSPAPTPACRGAE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000968447 CLINVAR
dbSNP (RS) rs142718878 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RENBP CLINVAR
OMIM 312420 CLINVAR