OR5AU1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- OR5AU1 (HGNC:15362) HGNC Entrez Ensembl UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- olfactory receptor family 5 subfamily AU member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 78.44(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.08(Read more about gnomAD pLI score)
- LOEUF
- 1.88(Read more about gnomAD LOEUF score)
- Cytoband
- 14q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr14:21623024-21624222 NCBI Ensembl UCSC GRCh38/hg38: chr14:21154865-21156063 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001004731.3 ENST00000304418.5 (Read more about MANE Select)
- Function
- Odorant receptor. {ECO:0000305}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19861
ClinGen Curation ID:
CCID:007595
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/11/2015
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)