RGD:15145974 Rat Genome Database

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Variant: RGD:15145974 -  Homo sapiens

RGD ID: 15145974
RS ID: rs782722255
ClinVar ID: CV766658
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902041  SLC39A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,641,452
GRCh38 8 144,416,068
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.145641452C>T
NM_130849.3:c.216G>A
NP_060237.3:p.Leu47=
NP_570901.3:p.Leu72=
More... 		10/15/2020 intron variant likely benign 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_130849
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLVSLELGLLLAVLVVTATASPPAGLLSLLTSGQGALDQEALGGLLNTLADRVHCANGPCGKCLSVEDALGLGEPEGS
GLPPGPVLEARYVARLSAAAVLYLSNPEGTCEDARAGLWASHADHLLALLESPKALTPGLSWLLQRMQARAAGQTPKMAC
VDIPQLLEEAVGAGAPGSAGGVLAALLDHVRSGSCFHALPSPQYFVDFVFQQHSSEVPMTLAELSALMQRLGVGREAHSD
HSHRHRGASSRDPVPLISSSNSSSVWDTVCLSARDVMAAYGLSEQAGVTPEAWAQLSPALLQQQLSGACTSQSRPPVQDQ
LSQSERYLYGSLATLLICLCAVFGLLLLTCTGCRGVTHYILQTFLSLAVGAVTGDAVLHLTPKVLGLHTHSEEGLSPQPT
WRLLAMLAGLYAFFLFENLFNLLLPRDPEDLEDGPCGHSSHSHGGHSHGVSLQLAPSELRQPKPPHEGSRADLVAEESPE
LLNPEPRRLSPELRLLPYMITLGDAVHNFADGLAVGAAFASSWKTGLATSLAVFCHELPHELGDFAALLHAGLSVRQALL
LNLASALTAFAGLYVALAVGVSEESEAWILAVATGLFLYVALCDMLPAMLKVRDPRPWLLFLLHNVGLLGGWTVLLLLSL
YEDDITF*

Gene Symbol:SLC39A4
Accession:NM_017767
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDVVGLERETGPRGSPWPGLPLPSLVGPAPLLTCLCPQCLSVEDALGLGEPEGSGLPPGPVLEARYVARLSAAAVLYLS
NPEGTCEDARAGLWASHADHLLALLESPKALTPGLSWLLQRMQARAAGQTPKMACVDIPQLLEEAVGAGAPGSAGGVLAA
LLDHVRSGSCFHALPSPQYFVDFVFQQHSSEVPMTLAELSALMQRLGVGREAHSDHSHRHRGASSRDPVPLISSSNSSSV
WDTVCLSARDVMAAYGLSEQAGVTPEAWAQLSPALLQQQLSGACTSQSRPPVQDQLSQSERYLYGSLATLLICLCAVFGL
LLLTCTGCRGVTHYILQTFLSLAVGAVTGDAVLHLTPKVLGLHTHSEEGLSPQPTWRLLAMLAGLYAFFLFENLFNLLLP
RDPEDLEDGPCGHSSHSHGGHSHGVSLQLAPSELRQPKPPHEGSRADLVAEESPELLNPEPRRLSPELRLLPYMITLGDA
VHNFADGLAVGAAFASSWKTGLATSLAVFCHELPHELGDFAALLHAGLSVRQALLLNLASALTAFAGLYVALAVGVSEES
EAWILAVATGLFLYVALCDMLPAMLKVRDPRPWLLFLLHNVGLLGGWTVLLLLSLYEDDITF*

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

Gene Symbol:SLC39A4
Accession:XM_024447189
Location:INTRON

Gene Symbol:SLC39A4
Accession:NM_001374839
Location:INTRON

Gene Symbol:SLC39A4
Accession:NM_001280557
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000944671 CLINVAR
  RCV001832178 CLINVAR
dbSNP (RS) rs782722255 CLINVAR
MedGen C0221036 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC39A4 CLINVAR
OMIM 201100 CLINVAR
  607059 CLINVAR
SNOMED CT 37702000 CLINVAR