rs2128420377 Rat Genome Database

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Variant: rs2128420377 -  Homo sapiens

RGD ID: 126924286
RS ID: rs2128420377
ClinVar ID: CV1044032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERAC1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 158,565,455
GRCh38 6 158,144,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032861.4:c.488-3T>G
NG_032889.1:g.28858T>G
NC_000006.12:g.158144423A>C
NC_000006.11:g.158565455A>C
 09/10/2020 intron variant uncertain significance 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERAC1
Accession:XM_006715586
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_047419421
Location:INTRON

Gene Symbol:SERAC1
Accession:NM_032861
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_011536198
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_024446573
Location:INTRON

Gene Symbol:SERAC1
Accession:NR_073096
Location:INTRON;NON-CODING

Gene Symbol:SERAC1
Accession:XR_007059349
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001366858 CLINVAR
dbSNP (RS) rs2128420377 CLINVAR
MedGen C4040739 CLINVAR
NCBI Gene SERAC1 CLINVAR
OMIM 614725 CLINVAR
  614739 CLINVAR