rs556568423 Rat Genome Database

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Variant: rs556568423 -  Homo sapiens

RGD ID: 12899070
RS ID: rs556568423
ClinVar ID: CV410561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAT3  SCAMP4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,912,807
GRCh38 19 1,912,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329539.2:c.-125-4886G>A
NM_001329540.2:c.-41-2171G>A
NM_079834.4:c.-41-2171G>A
NM_138422.4:c.761G>A
More... 		06/07/2019 intron variant|missense variant likely benign|uncertain significance ADAT3-related condition; none provided

Variant Details
Variant Transcripts
Gene Symbol:SCAMP4
Accession:NM_079834
Location:5UTRS;INTRON

Gene Symbol:SCAMP4
Accession:NM_001329540
Location:5UTRS;INTRON

Gene Symbol:SCAMP4
Accession:NM_001329539
Location:5UTRS;INTRON

Gene Symbol:ADAT3
Accession:NM_138422
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILCSRLCLPQSASLRMEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVS
ALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARA
HWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHA
VMVCVDLVARGQGHGTYDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARIL
RVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*

Gene Symbol:ADAT3
Accession:NM_001329533
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHLKRVRP
SRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSAL
AGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGHGT
YDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARILRVFYGAPSPDGALGTR
FRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000479359 CLINVAR
  RCV003932782 CLINVAR
dbSNP (RS) rs556568423 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADAT3 CLINVAR
  SCAMP4 CLINVAR
OMIM 613764 CLINVAR
  615302 CLINVAR