RGD:15132701 Rat Genome Database

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Variant: RGD:15132701 -  Homo sapiens

RGD ID: 15132701
RS ID: rs529649181
ClinVar ID: CV775310
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902041  SLC39A4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,641,483
GRCh38 8 144,416,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130849.3:c.193-8G>C
NM_017767.3:c.110G>C
NM_001374839.1:c.192+499G>C
NM_130849.4:c.193-8G>C
More...
08/08/2018 intron variant likely benign|uncertain significance Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; Danbolt-Cross syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC39A4
Accession:NM_017767
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDVVGLERETGPRGSPWPGLPLPSLVGPAPLLTCLSPQCLSVEDALGLGEPEGSGLPPGPVLEARYVARLSAAAVLYLS
NPEGTCEDARAGLWASHADHLLALLESPKALTPGLSWLLQRMQARAAGQTPKMACVDIPQLLEEAVGAGAPGSAGGVLAA
LLDHVRSGSCFHALPSPQYFVDFVFQQHSSEVPMTLAELSALMQRLGVGREAHSDHSHRHRGASSRDPVPLISSSNSSSV
WDTVCLSARDVMAAYGLSEQAGVTPEAWAQLSPALLQQQLSGACTSQSRPPVQDQLSQSERYLYGSLATLLICLCAVFGL
LLLTCTGCRGVTHYILQTFLSLAVGAVTGDAVLHLTPKVLGLHTHSEEGLSPQPTWRLLAMLAGLYAFFLFENLFNLLLP
RDPEDLEDGPCGHSSHSHGGHSHGVSLQLAPSELRQPKPPHEGSRADLVAEESPELLNPEPRRLSPELRLLPYMITLGDA
VHNFADGLAVGAAFASSWKTGLATSLAVFCHELPHELGDFAALLHAGLSVRQALLLNLASALTAFAGLYVALAVGVSEES
EAWILAVATGLFLYVALCDMLPAMLKVRDPRPWLLFLLHNVGLLGGWTVLLLLSLYEDDITF*

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

Gene Symbol:SLC39A4
Accession:NM_130849
Location:INTRON

Gene Symbol:SLC39A4
Accession:NM_001280557
Location:INTRON

Gene Symbol:SLC39A4
Accession:XM_024447189
Location:INTRON

Gene Symbol:SLC39A4
Accession:NM_001374839
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000942446 CLINVAR
  RCV001162894 CLINVAR
dbSNP (RS) rs529649181 CLINVAR
MedGen C0221036 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC39A4 CLINVAR
OMIM 201100 CLINVAR
  607059 CLINVAR
SNOMED CT 37702000 CLINVAR