rs774308958 Rat Genome Database

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Variant: rs774308958 -  Homo sapiens

RGD ID: 153347033
RS ID: rs774308958
ClinVar ID: CV1691917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFU1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 69,650,729
GRCh38 2 69,423,597
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374284.1:c.215G>A
NM_015700.4:c.215G>A
NM_001002755.4:c.287G>A
NG_031931.1:g.19032G>A
More... 		11/27/2023 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFU1
Accession:NM_001002756
Location:5UTRS;INTRON

Gene Symbol:NFU1
Accession:NM_015700
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFHSPLARQLF
RIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPT
VQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP*

Gene Symbol:NFU1
Accession:NM_001002755
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPV
LETRTMDFPTPAAAFHSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGE
AGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQ
VMDDESDEKEANSP*

Gene Symbol:NFU1
Accession:NM_001374284
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFHSPLARQLF
RIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPT
VQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP*

Gene Symbol:NFU1
Accession:XM_047443939
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFHSPLARQLF
RIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPT
VQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP*

Gene Symbol:NFU1
Accession:NR_045632
Location:INTRON;NON-CODING

Gene Symbol:NFU1
Accession:NR_045631
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002273401 CLINVAR
  RCV003120870 CLINVAR
dbSNP (RS) rs774308958 CLINVAR
MedGen C3276432 CLINVAR
  C3661900 CLINVAR
NCBI Gene NFU1 CLINVAR
OMIM 605711 CLINVAR
  608100 CLINVAR