SLC4A5 solute carrier family 4 member 5

Information
Symbol
SLC4A5
Type
protein-coding
Description
solute carrier family 4 member 5
Entrez Gene ID
57835
Genome
hg19
Position
chr2:74,448,594-74,570,536
Genome
hg38
Position
chr2:74,221,467-74,343,409
MIM
606757 OMIM
HGNC
HGNC:18168 HGNC
Ensembl
ENSG00000188687 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 36
Uncertain significance 0 120
Ranking
ClinVar
0
0
4
156
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
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 NBC4
SYNONYM NBCe2
MIM 606757 OMIM
HGNC HGNC:18168 HGNC
Ensembl ENSG00000188687 Ensembl
AllianceGenome HGNC:18168
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358683.8 hg38 chr2 74,221,434 74,328,166 106,733
ENST00000423644.5 hg38 chr2 74,216,243 74,334,193 117,951
ENST00000346834.8 hg38 chr2 74,216,243 74,334,193 117,951
ENST00000394019.7 hg38 chr2 74,216,242 74,343,416 127,175
ENST00000377634.8 hg38 chr2 74,221,467 74,343,409 121,943
ENST00000377632.5 hg38 chr2 74,221,467 74,315,023 93,557
ENST00000394019.7 hg19 chr2 74,443,369 74,570,543 127,175
ENST00000346834.8 hg19 chr2 74,443,370 74,561,320 117,951
ENST00000423644.5 hg19 chr2 74,443,370 74,561,320 117,951
ENST00000358683.8 hg19 chr2 74,448,561 74,555,293 106,733
ENST00000377632.5 hg19 chr2 74,448,594 74,542,150 93,557
ENST00000377634.8 hg19 chr2 74,448,594 74,570,536 121,943
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