Assay Details
Target Gene Details
Entrez Gene ID: | 26058 |
Gene Name: | GRB10 interacting GYF protein 2 |
Gene Aliases: |
GYF2, PARK11, PERQ2, PERQ3, TNRC15 |
Location: |
Chr.2:232697305-232860577 on Build GRCh38 |
Assay Gene Location: | Within Intron 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GIGYF2 | NM_001103146.1 | NP_001096616.1 | ||
NM_001103147.1 | NP_001096617.1 | |||
NM_001103148.1 | NP_001096618.1 | |||
NM_015575.3 | NP_056390.2 | |||
NR_103492.1 | ||||
AB014542.2 | ||||
AK001739.1 | BAA91873.1 | |||
AK297162.1 | ||||
AK299418.1 | ||||
AK302998.1 | ||||
AY176045.1 | AAO46889.1 | |||
BC136251.1 | ||||
BC146775.1 | ||||
BX537885.1 | CAD97881.1 | |||
BX538172.1 | ||||
BX538321.1 | CAD98095.1 | |||
BX647505.1 |
Target Gene Details
Entrez Gene ID: | 3769 |
Gene Name: | potassium voltage-gated channel subfamily J member 13 |
Gene Aliases: |
KIR1.4, KIR7.1, LCA16, SVD |
Location: |
Chr.2:232765802-232776565 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KCNJ13 | NM_001172416.1 | NP_001165887.1 | ||
NM_001172417.1 | NP_001165888.1 | |||
NM_002242.4 | NP_002233.2 | |||
AK314019.1 | ||||
BC037290.2 | AAH37290.1 | |||
DA278958.1 | ||||
DB173405.1 | ||||
DN993097.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv584696 | Chr.2:232775199 - 232849976 on Build GRCh38 | Loss | GIGYF2 KCNJ13 |
nsv834570 | Chr.2:232774450 - 232940357 on Build GRCh38 | Gain | NGEF GIGYF2 KCNJ13 C2orf82 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |