Assay Details
Target Gene Details
Entrez Gene ID: | 64421 |
Gene Name: | DNA cross-link repair 1C |
Gene Aliases: |
A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C |
Location: |
Chr.10:14897853-14954432 on Build GRCh38 |
Assay Gene Location: | Within Intron 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DCLRE1C | XM_017016556.1 | XP_016872045.1 | ||
XM_017016559.1 | XP_016872048.1 | |||
XM_017016560.1 | XP_016872049.1 | |||
BC022254.1 | AAH22254.1 |
Target Gene Details
Entrez Gene ID: | 79723 |
Gene Name: | suppressor of variegation 3-9 homolog 2 |
Gene Aliases: |
KMT1B |
Location: |
Chr.10:14878783-14904315 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SUV39H2 | NM_001193424.1 | 4 | 1012 | NP_001180353.1 |
NM_001193425.1 | 4 | 970 | NP_001180354.1 | |
NM_001193426.1 | 4 | 472 | NP_001180355.1 | |
NM_001193427.1 | 4 | 430 | NP_001180356.1 | |
NM_024670.3 | 3 | 957 | NP_078946.1 | |
NR_034181.1 | 3 | 866 | ||
XM_006717503.3 | 4 | 1213 | XP_006717566.1 | |
XM_011519662.2 | 4 | 1001 | XP_011517964.1 | |
XM_017016637.1 | 3 | 907 | XP_016872126.1 | |
AK027067.1 | 3 | 763 | BAB15645.1 | |
AK222565.1 | 3 | 773 | ||
AK225369.1 | 3 | 765 | ||
AL834488.1 | 2 | 621 | CAD39146.1 | |
BC007754.2 | 3 | 957 | AAH07754.1 | |
BC029360.1 | 4 | 392 | AAH29360.1 | |
BU928392.1 | 4 | 451 | ||
CR457372.1 | 2 | 726 | CAG33653.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv469720 | Chr.10:14865281 - 15037379 on Build GRCh38 | Gain | SUV39H2 MEIG1 HSPA14 DCLRE1C LOC105376432 LOC105376430 |
nsv831793 | Chr.10:14870604 - 15058763 on Build GRCh38 | Loss | SUV39H2 MEIG1 OLAH HSPA14 DCLRE1C LOC105376432 LOC105376430 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |