rs199915192 Rat Genome Database

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Variant: rs199915192 -  Homo sapiens

RGD ID: 15201344
RS ID: rs199915192
ClinVar ID: CV728050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAT3  SCAMP4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,912,163
GRCh38 19 1,912,164
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.-125-5530G>A
NM_001329540.2:c.-41-2815G>A
NM_079834.4:c.-41-2815G>A
NM_138422.4:c.117G>A
More... 		06/01/2024 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SCAMP4
Accession:NM_001329540
Location:5UTRS;INTRON

Gene Symbol:SCAMP4
Accession:NM_079834
Location:5UTRS;INTRON

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

Gene Symbol:ADAT3
Accession:NM_001329533
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHLKRVRP
SRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSAL
AGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGRGT
YDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARILRVFYGAPSPDGALGTR
FRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*

Gene Symbol:ADAT3
Accession:NM_138422
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILCSRLCLPQSASLRMEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVS
ALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARA
HWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHA
VMVCVDLVARGQGRGTYDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARIL
RVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000891166 CLINVAR
dbSNP (RS) rs199915192 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADAT3 CLINVAR
  SCAMP4 CLINVAR
OMIM 613764 CLINVAR
  615302 CLINVAR