Assay Details
Target Gene Details
Entrez Gene ID: | 622 |
Gene Name: | 3-hydroxybutyrate dehydrogenase, type 1 |
Gene Aliases: |
BDH, SDR9C1 |
Location: |
Chr.3:197509783-197573323 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BDH1 | NM_004051.4 | 7 | 2275 | NP_004042.1 |
NM_203314.2 | 8 | 2427 | NP_976059.1 | |
NM_203315.2 | 7 | 2211 | NP_976060.1 | |
XM_005269352.3 | 7 | 2091 | XP_005269409.1 | |
XM_005269355.4 | 3 | 2044 | XP_005269412.1 | |
XM_011513067.2 | 6 | 3640 | XP_011511369.1 | |
XM_017007007.1 | 7 | 3719 | XP_016862496.1 | |
XM_017007008.1 | 8 | 4339 | XP_016862497.1 | |
XM_017007009.1 | 9 | 3294 | XP_016862498.1 | |
XM_017007010.1 | 8 | 3142 | XP_016862499.1 | |
XM_017007011.1 | 10 | 3352 | XP_016862500.1 | |
XM_017007012.1 | 9 | 3200 | XP_016862501.1 | |
XM_017007014.1 | 4 | 3316 | XP_016862503.1 | |
XM_017007015.1 | 5 | 2072 | XP_016862504.1 | |
AK126701.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv508982 | Chr.3:197446173 - 197598047 on Build GRCh38 | Insertion |
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dgv5041n100 | Chr.3:197327674 - 197627105 on Build GRCh38 | Gain |
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dgv8863n54 | Chr.3:197308114 - 197617305 on Build GRCh38 | Gain |
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nsv428433 | Chr.3:197508059 - 197770997 on Build GRCh38 | Gain+Loss |
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esv3599312 | Chr.3:197486097 - 197562644 on Build GRCh38 | Gain |
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dgv5040n100 | Chr.3:197306737 - 197543615 on Build GRCh38 | Gain |
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dgv5042n100 | Chr.3:197449848 - 197677483 on Build GRCh38 | Gain |
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esv2759214 | Chr.3:197128182 - 197770997 on Build GRCh38 | Gain+Loss |
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nsv471149 | Chr.3:197183211 - 197621219 on Build GRCh38 | Gain |
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dgv5038n100 | Chr.3:197134594 - 197659420 on Build GRCh38 | Gain |
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esv3599309 | Chr.3:197393955 - 197584204 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)