RGD:14707920 Rat Genome Database

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Variant: RGD:14707920 -  Homo sapiens

RGD ID: 14707920
RS ID: rs756499748
ClinVar ID: CV656020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101929727  RNLS  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 90,045,201
GRCh38 10 88,285,444
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031709.3:c.939A>T
NC_000010.11:g.88285444T>A
NC_000010.10:g.90045201T>A
NM_001031709.2:c.939A>T
More...
05/01/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RNLS
Accession:XM_005269948
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGAEVYFRHRVTQINLRDDKWEVSKQTGSPEQFDLIVLTMPV
PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGPSLV
IHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVTNAAANCPGQMTLHHKPFLACGGDGFTQSN
FDGCITSALCVLEALKNYI*

Gene Symbol:RNLS
Accession:XM_017016384
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGAEVYFRHRVTQINLRDDKWEVSKQTGSPEQFDLIVLTMPV
PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIGYKCCCQLSW
PNDSASQTFPCLWRGWIYSVQL*

Gene Symbol:RNLS
Accession:XM_005269947
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL
LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQINLRDDKWEVSKQTGSPEQFDLIVLT
MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIGYKCCCQ
LSWPNDSASQTFPCLWRGWIYSVQL*

Gene Symbol:RNLS
Accession:XM_017016385
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELGPGLRMLEFRVISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGPSL
VIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVTNAAANCPGQMTLHHKPFLACGGDGFTQS
NFDGCITSALCVLEALKNYI*

Gene Symbol:RNLS
Accession:NM_001031709
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL
LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQINLRDDKWEVSKQTGSPEQFDLIVLT
MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP
SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVTNAAANCPGQMTLHHKPFLACGGDGFT
QSNFDGCITSALCVLEALKNYI*

Gene Symbol:RNLS
Accession:XM_017016382
Location:INTRON

Gene Symbol:RNLS
Accession:XM_047425436
Location:INTRON

Gene Symbol:RNLS
Accession:XM_017016380
Location:INTRON

Gene Symbol:RNLS
Accession:NM_018363
Location:INTRON

Gene Symbol:RNLS
Accession:XM_011539924
Location:INTRON

Gene Symbol:RNLS
Accession:XM_011539927
Location:INTRON

Gene Symbol:RNLS
Accession:XM_017016381
Location:INTRON

Gene Symbol:RNLS
Accession:XM_047425435
Location:INTRON

Gene Symbol:RNLS
Accession:XM_005269949
Location:INTRON

Gene Symbol:LOC101929727
Accession:XR_007062226
Location:INTRON;NON-CODING

Gene Symbol:RNLS
Accession:XR_001747122
Location:INTRON;NON-CODING

Gene Symbol:LOC101929727
Accession:XR_001747537
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000826977 CLINVAR
dbSNP (RS) rs756499748 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RNLS CLINVAR
OMIM 609360 CLINVAR