RGD:8636694 Rat Genome Database

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Variant: RGD:8636694 -  Homo sapiens

RGD ID: 8636694
ClinVar ID: CV91919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAT3  SCAMP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,912,864
GRCh38 19 1,912,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.8:g.1863864C>T
NM_079834.2:c.-41-2114C>T
NC_000019.10:g.1912865C>T
NC_000019.9:g.1912864C>T
More... 		intron|intron variant|missense variant not provided Malignant melanoma, somatic

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: P to L (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILCSRLCLPQSASLRMEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVS
ALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARA
HWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHA
VMVCVDLVARGQGRGTYDFRPFPACSFAPAAALQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARIL
RVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*

Gene Symbol:ADAT3
Accession:NM_001329533
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHLKRVRP
SRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSAL
AGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGRGT
YDFRPFPACSFAPAAALQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARILRVFYGAPSPDGALGTR
FRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*
Variant Samples