Assay Details
Target Gene Details
Entrez Gene ID: | 51144 |
Gene Name: | hydroxysteroid 17-beta dehydrogenase 12 |
Gene Aliases: |
KAR, SDR12C1 |
Location: |
Chr.11:43680593-43856619 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD17B12 | NM_016142.2 | NP_057226.1 | ||
XM_011520156.1 | XP_011518458.1 | |||
XM_017017881.1 | XP_016873370.1 | |||
AF078850.1 | AAD44482.1 | |||
AK074952.1 | ||||
AK075011.1 | ||||
AK075216.1 | ||||
AK222881.1 | BAD96601.1 | |||
AK292625.1 | ||||
AK301663.1 | ||||
BC012043.1 | AAH12043.1 | |||
BC012536.1 | AAH12536.1 | |||
BP359822.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv7754 | Chr.11:43705668 - 43740211 on Build GRCh38 | Insertion | HSD17B12 |
nsv832136 | Chr.11:43689420 - 43808044 on Build GRCh38 | Gain+Loss | HSD17B12 |
nsv1127177 | Chr.11:43680144 - 43709194 on Build GRCh38 | Deletion | HSD17B12 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |