- #Collagenopathy with pierre robin sequence full#
- #Collagenopathy with pierre robin sequence download#
Location: 1302 → 1534 COLFI Fibrillar collagen C-terminal domain
Location: 849 → 908 Collagen Collagen triple helix repeat (20 copies) pfam00093 Location: 1301 → 1533 COLFI Fibrillar collagen C-terminal domain Location: 81 → 136 VWC von Willebrand factor type C domain pfam01410 Location: 848 → 907 Collagen Collagen triple helix repeat (20 copies) pfam00093
#Collagenopathy with pierre robin sequence download#
NC_000012.12 Reference GRCh38.p14 Primary Assembly Range 47972967.48006212 complement Download GenBank, FASTA, Sequence Viewer (Graphics)
Reference GRCh38.p14 Primary Assembly Genomic Model RNAs and proteins are also reported here.
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternateĪssemblies. Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as The following sections contain reference sequences that belong to a Location: 1185 → 1417 COLFI Fibrillar collagen C-terminal domain Location: 732 → 791 Collagen Collagen triple helix repeat (20 copies) pfam01410 The resulting protein (isoform 2) lacks the von Willebrand factor type C (VWC) domain, compared to isoform 1. Status: REVIEWED Description Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein. Location: 1254 → 1486 COLFI Fibrillar collagen C-terminal domain Location: 34 → 89 VWC von Willebrand factor type C domain pfam01410 Location: 801 → 860 Collagen Collagen triple helix repeat (20 copies) pfam00093 Status: REVIEWED Description Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1). See identical proteins and their annotated locations for NP_001835.3 NG_008072.1 RefSeqGene Range 5027.36536 Download GenBank, FASTA, Sequence Viewer (Graphics) This section to the one reported in Genomic regions, Identify version mismatches by comparing the version of the RefSeq in These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. Expression Low expression observed in reference dataset See more Orthologs mouse all NEW Try the new Gene table There are two transcripts identified for this gene.
In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type.
#Collagenopathy with pierre robin sequence full#
Full Name collagen type II alpha 1 chain provided by HGNC Primary source HGNC:HGNC:2200 See related Ensembl:ENSG00000139219 MIM:120140 AllianceGenome:HGNC:2200 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as AOM ANFH SEDC STL1 COL11A3 Summary This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye.
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