rs2104814012 Rat Genome Database

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Variant: rs2104814012 -  Homo sapiens

RGD ID: 152137990
RS ID: rs2104814012
ClinVar ID: CV1603835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFU1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 69,659,131
GRCh38 2 69,431,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001002756.2:c.-219T>C
NM_001374284.1:c.-4T>C
NM_015700.4:c.-4T>C
NM_001002755.4:c.69T>C
More... 		01/15/2022 5 prime utr variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFU1
Accession:XM_047443939
Location:5UTRS;EXON

Gene Symbol:NFU1
Accession:NM_001374284
Location:5UTRS;EXON

Gene Symbol:NFU1
Accession:NM_001002756
Location:5UTRS;EXON

Gene Symbol:NFU1
Accession:NM_015700
Location:5UTRS;EXON

Gene Symbol:NFU1
Accession:NM_001002755
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPV
LETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGE
AGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQ
VMDDESDEKEANSP*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002218983 CLINVAR
dbSNP (RS) rs2104814012 CLINVAR
MedGen C3276432 CLINVAR
NCBI Gene NFU1 CLINVAR
OMIM 605711 CLINVAR
  608100 CLINVAR