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 | 5780 | NP_001277185.1 |
NM_001290257.1 | 8 | 5715 | NP_001277186.1 | |
NM_015299.2 | 8 | 5843 | NP_056114.1 | |
XM_005267474.4 | 8 | 5799 | XP_005267531.1 | |
XM_011536590.2 | 8 | 5949 | XP_011534892.1 | |
AB002321.1 | 8 | 5780 | ||
CB115247.1 | 1 | 459 |
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: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SDR39U1 | NM_001290292.1 | NP_001277221.1 | ||
NM_001290293.2 | NP_001277222.1 | |||
NM_001308075.1 | NP_001295004.1 | |||
NM_020195.2 | NP_064580.2 | |||
XM_011536975.1 | XP_011535277.1 | |||
XM_011536976.1 | XP_011535278.1 | |||
AF226050.1 | AAF86950.1 | |||
AK123513.1 | ||||
BC000989.2 | AAH00989.1 | |||
BI256676.1 | ||||
BX161384.1 | CAD61875.1 | |||
CN406892.1 | ||||
CR995681.1 | ||||
DB443637.1 | ||||
DT220226.1 |
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 KHNYN SDR39U1 |
nsv482171 | Chr.14:24439768 - 24442801 on Build GRCh38 | Loss | KHNYN SDR39U1 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |