RGD:15190316 Rat Genome Database

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Variant: RGD:15190316 -  Homo sapiens

RGD ID: 15190316
RS ID: rs139124499
ClinVar ID: CV735685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR1C  RSPH9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 43,612,943
GRCh38 6 43,645,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152732.5:c.108G>A
NG_023436.1:g.5177G>A
NC_000006.12:g.43645206G>A
NC_000006.11:g.43612943G>A
More...
02/15/2018 intron variant|synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RSPH9
Accession:NM_152732
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALF
KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLR
SLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML*

Gene Symbol:RSPH9
Accession:NM_001193341
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVIDKAVAIIPRGALFKTPFGPTHVNRTFEG
LSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSEAVVQGDFTWLLSRCGFGWPCSWDSCSVSM
RVLEHPDGEGQCPGGAAQPALAGPHLLPCSPHQELWLRLRGHWREEHGLALHAIEWEPAWMFLNRV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALF
KTPFGPTHVNRTFEGSLLS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYRSRSR
KRPAWCLSLTRLTRLWPSSPEAPSSRPLLDPPMSIGPLKDCPCLRPRSSAPTSISGSLLS*

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909912 CLINVAR
dbSNP (RS) rs139124499 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLR1C CLINVAR
  RSPH9 CLINVAR
OMIM 610060 CLINVAR
  612648 CLINVAR