ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

Information
Symbol
ATP2A3
Type
protein-coding
Description
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
Entrez Gene ID
489
Genome
hg19
Position
chr17:3,828,585-3,867,585
Genome
hg38
Position
chr17:3,925,291-3,964,291
MIM
601929 OMIM
HGNC
HGNC:813 HGNC
Ensembl
ENSG00000074370 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 58
Likely benign 0 64
Uncertain significance 0 104
Ranking
ClinVar
0
0
18
200
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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MGeND data only
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Variant name Gene AA change CDS Japanese
frequency
TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence
Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
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MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM SERCA3
MIM 601929 OMIM
HGNC HGNC:813 HGNC
Ensembl ENSG00000074370 Ensembl
AllianceGenome HGNC:813
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000352011.7 hg38 chr17 3,925,291 3,964,346 39,056
ENST00000359983.7 hg38 chr17 3,925,291 3,964,291 39,001
ENST00000309890.11 hg38 chr17 3,923,870 3,964,464 40,595
ENST00000397043.7 hg38 chr17 3,925,346 3,964,415 39,070
ENST00000397041.8 hg38 chr17 3,923,873 3,964,437 40,565
ENST00000397035.7 hg38 chr17 3,923,875 3,964,419 40,545
ENST00000309890.11 hg19 chr17 3,827,164 3,867,758 40,595
ENST00000397041.8 hg19 chr17 3,827,167 3,867,731 40,565
ENST00000397035.7 hg19 chr17 3,827,169 3,867,713 40,545
ENST00000359983.7 hg19 chr17 3,828,585 3,867,585 39,001
ENST00000352011.7 hg19 chr17 3,828,585 3,867,640 39,056
ENST00000397043.7 hg19 chr17 3,828,640 3,867,709 39,070
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