ENST00000543936.7 BLOC1S5

Information
Transcript ID
ENST00000543936.7
Genome
hg38
Position
chr6:8,015,724-8,064,385
Strand
-
CDS length
273
Amino acid length
91
Gene symbol
BLOC1S5
Gene type
protein-coding
Gene description
biogenesis of lysosomal organelles complex 1 subunit 5
Gene Entrez Gene ID
63915
Variants

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Target data :
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
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Target data :
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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Target data :
MGeND data only
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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
Exon
Exon number Start Stop
4 8,015,724 8,015,828
3 8,026,367 8,026,425
2 8,062,534 8,062,616
1 8,064,265 8,064,385
CDS
Exon number Type Start Stop
4 CDS 8,015,810 8,015,828
3 CDS 8,026,367 8,026,425
2 CDS 8,062,534 8,062,616
1 CDS 8,064,265 8,064,376
Other genome
Genome Chromosome Start End Links
hg19 chr6 8,015,957 8,064,618 Link
CDS sequence
ATGAGTGGCGGAGGGACAGAGACCCCTGTGGGTTGTGAGGCCGCCCCGGGCGGTGGCAGCAAGAAGAGGGACTCCCTGGGGACTGCGGGCTCAGCGCACCTCATTATCAAGGATCTTGGAGAAATTCATTCAAGGCTTTTGGATCACAGACCAGTTATTCAAGGTGAAACTCGTTATTTTGTAAAAGAATTTGAATGCAAGCAGCTAATGACTCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAG
Amino sequence
MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFECKQLMTQSVDSNRGNRNEKRFIVTT*