rs1641936336 Rat Genome Database

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Variant: rs1641936336 -  Homo sapiens

RGD ID: 39457647
RS ID: rs1641936336
ClinVar ID: CV966371
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NMNAT1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 10,041,108
GRCh38 1 9,981,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022787.4:c.319G>T
NG_032954.1:g.42623G>T
NC_000001.11:g.9981050G>T
NM_001297778.1:c.319G>T
More... 		nonsense pathogenic Amaurosis congenita of Leber, type 9; LCA 9; LCA9 Leber Congenital Amaurosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NMNAT1
Accession:XM_047428080
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:NM_022787
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:XM_047428082
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:NM_001297778
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:NM_001297779
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:XM_017002107
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:XM_011541971
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKGL*

Gene Symbol:NMNAT1
Accession:XM_047428077
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:XM_017002108
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAASS*

Gene Symbol:NMNAT1
Accession:XM_047428076
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKL*ASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*
Variant Samples
Additional References at PubMed
PMID:22842229  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001256660 CLINVAR
dbSNP (RS) rs1641936336 CLINVAR
MedGen C1837873 CLINVAR
NCBI Gene NMNAT1 CLINVAR
OMIM 608553 CLINVAR
  608700 CLINVAR