Assay Details
Target Gene Details
Entrez Gene ID: | 29919 |
Gene Name: | chromosome 18 open reading frame 8 |
Gene Aliases: |
HsT2591, MIC1, Mic-1 |
Location: |
Chr.18:23503470-23531807 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 12 - Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C18orf8 | NM_001276342.1 | NP_001263271.1 | ||
NM_001318707.1 | NP_001305636.1 | |||
NM_001318708.1 | NP_001305637.1 | |||
NM_001318709.1 | NP_001305638.1 | |||
NM_013326.4 | NP_037458.3 | |||
XM_011525939.1 | XP_011524241.1 | |||
XM_017025717.1 | XP_016881206.1 | |||
AF143536.1 | AAD33909.1 | |||
AK027106.1 | ||||
AK057192.1 | BAB71377.1 | |||
AK294169.1 | ||||
AK295246.1 | ||||
AK296230.1 | ||||
BC002950.1 | AAH02950.2 | |||
BC008305.1 | AAH08305.2 |
Target Gene Details
Entrez Gene ID: | 4864 |
Gene Name: | NPC intracellular cholesterol transporter 1 |
Gene Aliases: |
NPC |
Location: |
Chr.18:23506184-23586617 on Build GRCh38 |
Assay Gene Location: | Within Intron 27 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NPC1 | XM_005258277.1 | XP_005258334.1 | ||
XM_005258279.2 | XP_005258336.1 | |||
XM_006722479.3 | XP_006722542.1 | |||
XM_011526015.1 | XP_011524317.1 | |||
XM_017025787.1 | XP_016881276.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv576572 | Chr.18:23507567 - 23591181 on Build GRCh38 | Loss | NPC1 C18orf8 |
esv34149 | Chr.18:23278175 - 23641927 on Build GRCh38 | Loss | RIOK3 NPC1 TMEM241 C18orf8 ANKRD29 |
nsv509688 | Chr.18:23483859 - 23610653 on Build GRCh38 | Insertion | NPC1 C18orf8 ANKRD29 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |