SLC4A3 solute carrier family 4 member 3

Information
Symbol
SLC4A3
Type
protein-coding
Description
solute carrier family 4 member 3
Entrez Gene ID
6508
Genome
hg19
Position
chr2:220,492,287-220,506,702
Genome
hg38
Position
chr2:219,627,565-219,641,980
MIM
106195 OMIM
HGNC
HGNC:11029 HGNC
Ensembl
ENSG00000114923 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 28
Likely benign 0 26
Uncertain significance 0 148
Ranking
ClinVar
0
0
8
180
14
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
Search Word
Target data :
MGeND data only
Category :
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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
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 AE3
SYNONYM CAE3/BAE3
SYNONYM SLC2C
SYNONYM SQT7
MIM 106195 OMIM
HGNC HGNC:11029 HGNC
Ensembl ENSG00000114923 Ensembl
AllianceGenome HGNC:11029
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000317151.7 hg38 chr2 219,627,661 219,641,980 14,320
ENST00000358055.8 hg38 chr2 219,627,630 219,641,971 14,342
ENST00000273063.10 hg38 chr2 219,627,565 219,641,980 14,416
ENST00000373760.6 hg38 chr2 219,627,394 219,641,971 14,578
ENST00000373760.6 hg19 chr2 220,492,116 220,506,693 14,578
ENST00000273063.10 hg19 chr2 220,492,287 220,506,702 14,416
ENST00000358055.8 hg19 chr2 220,492,352 220,506,693 14,342
ENST00000317151.7 hg19 chr2 220,492,383 220,506,702 14,320
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