rs2509943 Rat Genome Database

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Variant: rs2509943 -  Homo sapiens

RGD ID: 12895926
RS ID: rs2509943
ClinVar ID: CV390028
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANKRD49  MRE11  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 94,231,257
GRCh38 11 94,498,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_017704.3:c.279C>G
LRG_85t1:c.-4406G>C
LRG_85:g.784G>C
NG_007261.1:g.784G>C
More... 		03/29/2016 genic upstream transcript variant|synonymous variant benign AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:MRE11
Accession:XM_011542837
Location:5UTRS;INTRON

Gene Symbol:ANKRD49
Accession:NM_017704
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKEKGNDDGIPDQENSLDFSEHFNQLELLETHGHLIPTGTQSLWVGNSDEDEEQDDKNEEWYRLQEKKMEKDPSRLLLW
AAEKNRLTTVRRLLSEKATHVNTRDEDEYTPLHRAAYSGHLDIVQELIAQGADVHAVTVDGWTPLHSACKWNNTRVASFL
LQHDADINAQTKGLLTPLHLAAGNRDSKDTLELLLMNRYVKPGLKNNLEETAFDIARRTSIYHYLFEIVEGCTNSSPQS*

Gene Symbol:ANKRD49
Accession:XM_017017941
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKEKGNDDGIPDQENSLDFSEHFNQLELLETHGHLIPTGTQSLWVGNSDEDEEQDDKNEEWYRLQEKKMEKDPSRLLLW
AAEKNRLTTVRRLLSEKATHVNTRDEDEYTPLHRAAYSGHLDIVQELIAQGADVHAVTVDGWTPLHSACKWNNTRVASFL
LQHDADINAQTKGLLTPLHLAAGNRDSKDTLELLLMNRYVKPGLKNNLEETAFDIARRTSIYHYLFEIVEGCTNSSPQS*

Gene Symbol:MRE11
Accession:XM_017017772
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426968
Location:INTRON

Gene Symbol:MRE11
Accession:XM_005274008
Location:INTRON

Gene Symbol:MRE11
Accession:XM_047426967
Location:INTRON

Gene Symbol:MRE11
Accession:XM_006718842
Location:INTRON

Gene Symbol:MRE11
Accession:NM_001330347
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005590
Location:INTRON

Gene Symbol:MRE11
Accession:NM_005591
Location:INTRON

Gene Symbol:MRE11
Accession:XR_947828
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062483
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062484
Location:INTRON;NON-CODING

Gene Symbol:MRE11
Accession:XR_007062482
Location:INTRON;NON-CODING

.
PMID:24033266   PMID:25741868  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000454644 CLINVAR
  RCV004707287 CLINVAR
dbSNP (RS) rs2509943 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ANKRD49 CLINVAR
  MRE11 CLINVAR
OMIM 600814 CLINVAR
  619571 CLINVAR
1 to 9 of 9 rows