Description
Norrie disease (pseudoglioma) [Source:HGNC Symbol;Acc:7678]
Gene Synonyms
EVR2, FEVR, ND, norrin
Location
Chromosome X: 43,808,928-43,832,632 reverse strand.
About this transcript
This transcript has 3 exons, is associated with 7962 variant alleles and maps to 271 oligo probes.
Gene
This transcript is a product of gene ENSG00000124479.8 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000378062.5 | NDP-001 | 1833 | 133aa | ENSP00000367301.5 | Protein coding | CCDS14262 | Q00604 | NM_000266.3 | GENCODE basic, |
| ENST00000470584.1 | NDP-002 | 563 | No protein | - | Processed transcript | - | - | - |