BLTP2 bridge-like lipid transfer protein family member 2

Information
Symbol
BLTP2
Type
protein-coding
Description
bridge-like lipid transfer protein family member 2
Entrez Gene ID
9703
Genome
hg19
Position
chr17:26,941,464-26,972,176
Genome
hg38
Position
chr17:28,614,446-28,645,158
MIM
610664 OMIM
HGNC
HGNC:28960 HGNC
Ensembl
ENSG00000007202 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 16
Uncertain significance 0 176
Ranking
ClinVar
0
0
0
200
2
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 BCOX
SYNONYM BCOX1
SYNONYM CT101
SYNONYM FMP27
SYNONYM Hob
SYNONYM KIAA0100
MIM 610664 OMIM
HGNC HGNC:28960 HGNC
Ensembl ENSG00000007202 Ensembl
AllianceGenome HGNC:28960
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000389003.7 hg38 chr17 28,614,882 28,645,454 30,573
ENST00000528896.7 hg38 chr17 28,614,446 28,645,158 30,713
ENST00000528896.7 hg19 chr17 26,941,464 26,972,176 30,713
ENST00000389003.7 hg19 chr17 26,941,900 26,972,472 30,573
Genome browser