Assay Details
Target Gene Details
Entrez Gene ID: | 145173 |
Gene Name: | beta 3-glucosyltransferase |
Gene Aliases: |
B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T |
Location: |
Chr.13:31199975-31332276 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B3GLCT | NM_194318.3 | NP_919299.3 | ||
XM_006719768.3 | XP_006719831.1 | |||
XM_011534936.1 | XP_011533238.1 | |||
XM_011534938.2 | XP_011533240.1 | |||
XM_017020395.1 | XP_016875884.1 | |||
AB101481.1 | BAD13528.1 | |||
AK291273.1 | ||||
AY190526.1 | AAO37647.1 | |||
BC068595.1 | AAH68595.1 | |||
DN999521.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2761783 | Chr.13:31151962 - 31318893 on Build GRCh38 | Gain | B3GLCT HSPH1 |
esv2751142 | Chr.13:31152041 - 31332004 on Build GRCh38 | Gain | B3GLCT HSPH1 |
nsv561399 | Chr.13:31160464 - 31297526 on Build GRCh38 | Gain | B3GLCT HSPH1 |
esv3631693 | Chr.13:31151395 - 31317129 on Build GRCh38 | Gain | B3GLCT HSPH1 |
nsv1043630 | Chr.13:31162792 - 31311663 on Build GRCh38 | Gain | B3GLCT HSPH1 |
nsv528568 | Chr.13:31152516 - 31297526 on Build GRCh38 | Gain | B3GLCT HSPH1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |