Assay Details
Target Gene Details
Entrez Gene ID: | 64409 |
Gene Name: | Williams-Beuren syndrome chromosome region 17 |
Gene Aliases: |
GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T5L |
Location: |
Chr.7:71132414-71713601 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WBSCR17 | NM_022479.2 | NP_071924.1 | ||
XM_011516467.2 | XP_011514769.1 | |||
XM_011516469.2 | XP_011514771.1 | |||
XM_017012521.1 | XP_016868010.1 | |||
AB078148.1 | BAD93180.1 | |||
AF410457.1 | AAM62306.1 | |||
AJ626726.1 | CAF25037.1 | |||
AK290036.1 | ||||
BC067524.1 | AAH67524.1 | |||
BC067525.1 | AAH67525.1 | |||
BC069624.1 | AAH69624.1 | |||
BC069628.1 | AAH69628.1 | |||
BC069636.1 | AAH69636.1 | |||
BC069645.1 | AAH69645.1 | |||
BC069997.1 | AAH69997.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv27189 | Chr.7:71154924 - 71159643 on Build GRCh38 | Loss | WBSCR17 |
nsv1017575 | Chr.7:70687626 - 71905471 on Build GRCh38 | Gain | CALN1 AUTS2 WBSCR17 MIR3914-1 MIR3914-2 |
esv3613620 | Chr.7:71154728 - 71159926 on Build GRCh38 | Loss | WBSCR17 |
nsv519090 | Chr.7:70620948 - 71606911 on Build GRCh38 | Gain | AUTS2 WBSCR17 MIR3914-1 MIR3914-2 |
esv2657279 | Chr.7:71154686 - 71159891 on Build GRCh38 | Deletion | WBSCR17 |
nsv1034662 | Chr.7:70810726 - 71257967 on Build GRCh38 | Gain | WBSCR17 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |