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COL12A1 |
Gene Facts External Data Attribution
- HGNC Symbol
- COL12A1 (HGNC:2188) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type XII alpha 1 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- COL12A1L
- Alias symbols
- No aliases found
- %HI
- 16.13(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.38(Read more about gnomAD LOEUF score)
- Cytoband
- 6q13-q14.1
- Genomic Coordinates
-
GRCh37/hg19: chr6:75794042-75915769 NCBI Ensembl UCSC GRCh38/hg38: chr6:75084326-75206053 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004370.6 ENST00000322507.13 (Read more about MANE Select)
- Function
- Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12666
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)
