GOLT1B golgi transport 1B

Information
Symbol
GOLT1B
Type
protein-coding
Description
golgi transport 1B
Entrez Gene ID
51026
Genome
hg19
Position
chr12:21,654,723-21,671,342
Genome
hg38
Position
chr12:21,501,789-21,518,408
MIM
615078 OMIM
HGNC
HGNC:20175 HGNC
Ensembl
ENSG00000111711 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
6
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 :
Search word :
Filtering :
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 CGI-141
SYNONYM GCT2
SYNONYM GOT1
SYNONYM GOT1B
SYNONYM YMR292W
MIM 615078 OMIM
HGNC HGNC:20175 HGNC
Ensembl ENSG00000111711 Ensembl
AllianceGenome HGNC:20175
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000631252.2 hg38 chr12 21,501,830 21,507,955 6,126
ENST00000229314.10 hg38 chr12 21,501,789 21,518,408 16,620
ENST00000540141.5 hg38 chr12 21,501,815 21,516,203 14,389
ENST00000542038.5 hg38 chr12 21,501,793 21,516,184 14,392
ENST00000229314.10 hg19 chr12 21,654,723 21,671,342 16,620
ENST00000542038.5 hg19 chr12 21,654,727 21,669,118 14,392
ENST00000540141.5 hg19 chr12 21,654,749 21,669,137 14,389
ENST00000631252.2 hg19 chr12 21,654,764 21,660,889 6,126
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