Assay Details
Target Gene Details
Entrez Gene ID: | 80781 |
Gene Name: | collagen type XVIII alpha 1 chain |
Gene Aliases: |
KNO, KNO1, KS |
Location: |
Chr.21:45405137-45513720 on Build GRCh38 |
Assay Gene Location: | Within Exon 43 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COL18A1 | NM_030582.3 | 41 | 4523 | NP_085059.2 |
NM_130444.2 | 41 | 5228 | NP_569711.2 | |
NM_130445.3 | 42 | 4056 | NP_569712.2 | |
AF018081.1 | 41 | 4542 | AAC39658.1 | |
AF018082.1 | 42 | 4021 | AAC39659.1 | |
AF184060.1 | 4 | 506 | AAF01310.1 | |
AF333246.1 | ||||
AF333247.1 | AAK50626.1 | |||
AF416592.1 | 4 | 515 | AAL37720.1 | |
AK098216.1 | 8 | 2146 | ||
AK130835.1 | 9 | 1173 | ||
BC033715.1 | 30 | 2404 | AAH33715.1 | |
BC063833.1 | 42 | 3997 | AAH63833.1 | |
L22548.1 | 23 | 2006 | AAA51864.1 |
Target Gene Details
Entrez Gene ID: | 6573 |
Gene Name: | solute carrier family 19 member 1 |
Gene Aliases: |
CHMD, FOLT, IFC1, REFC, RFC1 |
Location: |
Chr.21:45502517-45563143 on Build GRCh38 |
Assay Gene Location: | Within Intron 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC19A1 | XM_017028445.1 | XP_016883934.1 | ||
AB209069.1 | BAD92306.1 | |||
AK310797.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516407 | Chr.21:45410958 - 45620742 on Build GRCh38 | Loss | COL18A1 MIR6815 SLC19A1 LOC105372840 COL18A1-AS1 |
esv2762114 | Chr.21:45260287 - 45647830 on Build GRCh38 | Gain | LOC642852 COL18A1 LOC107985476 POFUT2 COL18A1-AS2 MIR6815 SLC19A1 LOC105372840 LINC00205 LINC00316 COL18A1-AS1 |
nsv953653 | Chr.21:45409686 - 45560386 on Build GRCh38 | Deletion | COL18A1 COL18A1-AS2 MIR6815 SLC19A1 COL18A1-AS1 |
esv3893419 | Chr.21:45463239 - 45625553 on Build GRCh38 | Gain | COL18A1 MIR6815 SLC19A1 LOC105372840 |
dgv4437n100 | Chr.21:45453955 - 45546266 on Build GRCh38 | Gain | COL18A1 MIR6815 SLC19A1 |
nsv834111 | Chr.21:45423171 - 45585330 on Build GRCh38 | Loss | COL18A1 MIR6815 SLC19A1 COL18A1-AS1 |
nsv587855 | Chr.21:45506637 - 45517044 on Build GRCh38 | Loss | COL18A1 SLC19A1 |
nsv587853 | Chr.21:45506179 - 45562421 on Build GRCh38 | Loss | COL18A1 SLC19A1 |
dgv7903n54 | Chr.21:45496498 - 45540367 on Build GRCh38 | Loss | COL18A1 SLC19A1 |
dgv4438n100 | Chr.21:45462733 - 45559862 on Build GRCh38 | Gain | COL18A1 MIR6815 SLC19A1 |
nsv834112 | Chr.21:45502237 - 45628339 on Build GRCh38 | Gain | COL18A1 SLC19A1 LOC105372840 |
dgv4436n100 | Chr.21:45402338 - 45556768 on Build GRCh38 | Gain | COL18A1 COL18A1-AS2 MIR6815 SLC19A1 COL18A1-AS1 |
nsv459308 | Chr.21:45495128 - 45517044 on Build GRCh38 | Loss | COL18A1 SLC19A1 |
dgv7904n54 | Chr.21:45510528 - 45517044 on Build GRCh38 | Loss | COL18A1 SLC19A1 |
nsv587859 | Chr.21:45509353 - 45514326 on Build GRCh38 | Loss | COL18A1 SLC19A1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |