LOC110121333 (VISTA enhancer hs1218) - Rat Genome Database

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Gene: LOC110121333 (VISTA enhancer hs1218) Homo sapiens
Analyze
Symbol: LOC110121333
Name: VISTA enhancer hs1218
RGD ID: 38639603
Description: This locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in transgenic mice. [provided by RefSeq, Jun 2015]
Type: biological-region
RefSeq Status: PROVISIONAL
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381456,964,169 - 56,965,628 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371457,430,887 - 57,432,346 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01451,170,057 - 51,171,516 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110121333 COSMIC
GTEx LOC110121333 GTEx
Human Proteome Map LOC110121333 Human Proteome Map
NCBI Gene LOC110121333 ENTREZGENE