RGD:11609735 Rat Genome Database

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Variant: RGD:11609735 -  Homo sapiens

RGD ID: 11609735
RS ID: rs77422016
ClinVar ID: CV313533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902041  SLC39A4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 145,642,194
GRCh38 8 144,416,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012234.2:g.5081T>G
NC_000008.11:g.144416810A>C
NC_000008.10:g.145642194A>C
NM_130849.4:c.-21T>G
More... 		07/10/2021 2kb upstream variant|5 prime utr variant benign infancy 1-9 / 1 000 000 Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; Danbolt-Cross syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC39A4
Accession:NM_130849
Location:5UTRS;EXON

Gene Symbol:SLC39A4
Accession:XM_024447189
Location:5UTRS;EXON

Gene Symbol:SLC39A4
Accession:NM_001374839
Location:5UTRS;EXON

Gene Symbol:LOC124902041
Accession:XR_007061145
Location:EXON;NON-CODING

Gene Symbol:SLC39A4
Accession:NM_017767
Location:INTRON

Gene Symbol:SLC39A4
Accession:NM_001280557
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000372301 CLINVAR
dbSNP (RS) rs77422016 CLINVAR
MedGen C0221036 CLINVAR
NCBI Gene SLC39A4 CLINVAR
OMIM 201100 CLINVAR
  607059 CLINVAR
SNOMED CT 37702000 CLINVAR