Assay Details
Target Gene Details
Entrez Gene ID: | 23351 |
Gene Name: | KH and NYN domain containing |
Gene Aliases: |
KIAA0323 |
Location: |
Chr.14:24423186-24441342 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KHNYN | NM_001290256.1 | 8 | 5303 | NP_001277185.1 |
NM_001290257.1 | 8 | 5238 | NP_001277186.1 | |
NM_015299.2 | 8 | 5366 | NP_056114.1 | |
XM_005267474.4 | 8 | 5322 | XP_005267531.1 | |
XM_011536590.2 | 8 | 5472 | XP_011534892.1 | |
AB002321.1 | 8 | 5303 |
Target Gene Details
Entrez Gene ID: | 56948 |
Gene Name: | short chain dehydrogenase/reductase family 39U member 1 |
Gene Aliases: |
C14orf124, HCDI |
Location: |
Chr.14:24439766-24442905 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SDR39U1 | NM_001290292.1 | 5 | 503 | NP_001277221.1 |
NM_001290293.2 | 5 | 545 | NP_001277222.1 | |
NM_001308075.1 | 5 | 465 | NP_001295004.1 | |
NM_020195.2 | 6 | 585 | NP_064580.2 | |
XM_011536975.1 | 6 | 629 | XP_011535277.1 | |
XM_011536976.1 | 3 | 633 | XP_011535278.1 | |
AF226050.1 | 5 | 859 | AAF86950.1 | |
AK123513.1 | 4 | 1692 | ||
BC000989.2 | 6 | 585 | AAH00989.1 | |
BI256676.1 | 4 | 448 | ||
BX161384.1 | 4 | 496 | CAD61875.1 | |
CN406892.1 | 4 | 427 | ||
CR995681.1 | 4 | 429 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv1854n100 | Chr.14:24438841 - 24524460 on Build GRCh38 | Gain | CMA1 LOC101927045 SDR39U1 KHNYN |
nsv482171 | Chr.14:24439768 - 24442801 on Build GRCh38 | Loss | SDR39U1 KHNYN |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |