RGD:11522865 Rat Genome Database

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Variant: RGD:11522865 -  Homo sapiens

RGD ID: 11522865
RS ID: rs879253766
ClinVar ID: CV244029
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC39A14  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 22,273,793
GRCh38 8 22,416,280
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.22416280G>A
NC_000008.10:g.22273793G>A
NM_001351659.2:c.1177G>A
NM_015359.4:c.1147G>A
More... 		05/02/2018 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC39A14
Accession:NM_001351655
Location:INTRON

Gene Symbol:SLC39A14
Accession:XM_047421653
Location:INTRON

Gene Symbol:SLC39A14
Accession:XM_047421654
Location:INTRON

Gene Symbol:SLC39A14
Accession:XM_047421655
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001351656
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001351659
Location:INTRON

Gene Symbol:SLC39A14
Accession:XM_006716324
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001351657
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001135153
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001351658
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001351660
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001135154
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_015359
Location:INTRON

Gene Symbol:SLC39A14
Accession:NM_001128431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28541650  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000234927 CLINVAR
dbSNP (RS) rs879253766 CLINVAR
MedGen C4310765 CLINVAR
NCBI Gene SLC39A14 CLINVAR
OMIM 608736 CLINVAR
  617013 CLINVAR
OMIM Allele 608736.0004 CLINVAR