Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Entrez Gene ID: | 378884 |
Gene Name: | NHL repeat containing E3 ubiquitin protein ligase 1 |
Gene Aliases: |
EPM2A, EPM2B, MALIN, bA204B7.2 |
Location: |
Chr.6:18120487-18122620 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NHLRC1 | NM_198586.2 | 1 | 1006 | NP_940988.2 |
AY324850.1 | 1 | 1006 | AAQ19671.1 | |
BC103888.1 | 1 | 1006 | AAI03889.1 | |
BC103889.1 | 1 | 1006 | AAI03890.1 | |
BC103890.1 | 1 | 1006 | AAI03891.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv601049 | Chr.6:18099363 - 18131233 on Build GRCh38 | Gain | TPMT NHLRC1 |
nsv1034755 | Chr.6:18064320 - 18173781 on Build GRCh38 | Loss | KDM1B TPMT NHLRC1 |
nsv830597 | Chr.6:17953708 - 18123601 on Build GRCh38 | Loss | KIF13A NHLRC1 |
Set Membership: |
Intragenic Exonic DGV Variation |